PDMR-692585~246-R~AB7IJ0NI0-P2

Variant TypeCalling Status
MutationsCalled
Copy numberCalled
FusionsCalled
GeneSomatic
Mutations
ClassificationTypeVAFSomatic
Copy Number
CN statusFusions
A4GNT-
-
-
-
3Gain-
AADAC-
-
-
-
3Gain-
AADACL2-
-
-
-
3Gain-
AAGAB-
-
-
-
1Loss-
AAK1-
-
-
-
3Gain-
AARD-
-
-
-
3Gain-
ABCA1-
-
-
-
1Loss-
ABCA2-
-
-
-
1Loss-
ABCA7p.Q1183L
Missense
SNP
0.889
1Loss-
ABCC12p.R694P
Missense
SNP
0.425
2--
ABCC5-
-
-
-
3Gain-
ABCC8-
-
-
-
1Loss-
ABCF3-
-
-
-
3Gain-
ABCG5-
-
-
-
3Gain-
ABCG8-
-
-
-
3Gain-
ABHD1-
-
-
-
3Gain-
ABHD10-
-
-
-
3Gain-
ABHD14A-
-
-
-
1Loss-
ABHD14A-ACY1-
-
-
-
1Loss-
ABHD14B-
-
-
-
1Loss-
ABHD17A-
-
-
-
1Loss-
ABHD17B-
-
-
-
1Loss-
ABHD4-
-
-
-
1Loss-
ABHD5-
-
-
-
1Loss-
ABHD6-
-
-
-
1Loss-
ABHD8-
-
-
-
1Loss-
ABI3BP-
-
-
-
3Gain-
ABL1-
-
-
-
1Loss-
ABO-
-
-
-
1Loss-
ABRA-
-
-
-
3Gain-
ABTB1-
-
-
-
3Gain-
ABTB2-
-
-
-
1Loss-
AC002985.1-
-
-
-
1Loss-
AC005258.1-
-
-
-
1Loss-
AC005943.1-
-
-
-
1Loss-
AC006059.2-
-
-
-
1Loss-
AC006254.1-
-
-
-
1Loss-
AC006538.2-
-
-
-
1Loss-
AC007040.2-
-
-
-
3Gain-
AC007192.1-
-
-
-
1Loss-
AC007240.1-
-
-
-
3Gain-
AC007998.2-
-
-
-
1Loss-
AC008073.3-
-
-
-
3Gain-
AC008397.2-
-
-
-
1Loss-
AC008481.3-
-
-
-
1Loss-
AC008758.1-
-
-
-
1Loss-
AC008758.4-
-
-
-
1Loss-
AC008758.5-
-
-
-
1Loss-
AC008758.6-
-
-
-
1Loss-
AC008763.2-
-
-
-
1Loss-
AC008763.3-
-
-
-
1Loss-
AC008764.1-
-
-
-
1Loss-
AC008764.4-
-
-
-
1Loss-
AC008770.1-
-
-
-
1Loss-
AC008770.2-
-
-
-
1Loss-
AC008878.1-
-
-
-
1Loss-
AC008878.2-
-
-
-
1Loss-
AC008878.3-
-
-
-
1Loss-
AC009690.1-
-
-
-
1Loss-
AC009690.3-
-
-
-
1Loss-
AC009879.2-
-
-
-
3Gain-
AC009879.3-
-
-
-
3Gain-
AC010319.2-
-
-
-
1Loss-
AC010323.1-
-
-
-
1Loss-
AC010422.3-
-
-
-
1Loss-
AC010422.5-
-
-
-
1Loss-
AC010422.6-
-
-
-
1Loss-
AC010422.8-
-
-
-
1Loss-
AC010463.1-
-
-
-
1Loss-
AC010615.4-
-
-
-
1Loss-
AC010646.1-
-
-
-
1Loss-
AC011330.3-
-
-
-
0Del-
AC011448.1-
-
-
-
1Loss-
AC011498.4-
-
-
-
1Loss-
AC011499.1-
-
-
-
1Loss-
AC011511.1-
-
-
-
1Loss-
AC011511.4-
-
-
-
1Loss-
AC012213.5-
-
-
-
3Gain-
AC012254.2-
-
-
-
1Loss-
AC012476.1-
-
-
-
1Loss-
AC012531.2-
-
-
-
1Loss-
AC012651.1-
-
-
-
1Loss-
AC013717.1-
-
-
-
3Gain-
AC017083.3-
-
-
-
3Gain-
AC018362.3-
-
-
-
1Loss-
AC018512.1-
-
-
-
1Loss-
AC018523.2-
-
-
-
1Loss-
AC020636.2-
-
-
-
3Gain-
AC021660.3-
-
-
-
3Gain-
AC022384.1-
-
-
-
1Loss-
AC022826.2-
-
-
-
3Gain-
AC024592.3-
-
-
-
1Loss-
AC026316.5-
-
-
-
3Gain-
AC036214.3-
-
-
-
3Gain-
AC037459.1-
-
-
-
1Loss-
AC068580.4-
-
-
-
1Loss-
AC068631.2-
-
-
-
3Gain-
AC069257.3-
-
-
-
3Gain-
AC069368.1-
-
-
-
1Loss-
AC069444.2-
-
-
-
3Gain-
AC073082.1-
-
-
-
3Gain-
AC073283.3-
-
-
-
3Gain-
AC079594.2-
-
-
-
3Gain-
AC083800.1-
-
-
-
3Gain-
AC084337.2-
-
-
-
1Loss-
AC087632.1-
-
-
-
1Loss-
AC087721.2-
-
-
-
1Loss-
AC090004.1-
-
-
-
1Loss-
AC090227.1-
-
-
-
1Loss-
AC090360.1-
-
-
-
1Loss-
AC090517.4-
-
-
-
1Loss-
AC090527.2-
-
-
-
1Loss-
AC091057.6-
-
-
-
1Loss-
AC091551.1-
-
-
-
1Loss-
AC092042.3-
-
-
-
1Loss-
AC092329.3-
-
-
-
1Loss-
AC096887.1-
-
-
-
1Loss-
AC097634.4-
-
-
-
1Loss-
AC097636.1-
-
-
-
1Loss-
AC097637.1-
-
-
-
1Loss-
AC098650.1-
-
-
-
1Loss-
AC100868.1-
-
-
-
3Gain-
AC104304.1-
-
-
-
1Loss-
AC104389.4-
-
-
-
1Loss-
AC104389.5-
-
-
-
1Loss-
AC104452.1-
-
-
-
1Loss-
AC104472.3-
-
-
-
3Gain-
AC104532.1-
-
-
-
1Loss-
AC107871.1-
-
-
-
1Loss-
AC107959.5-
-
-
-
1Loss-
AC108488.2-
-
-
-
3Gain-
AC109583.3-
-
-
-
1Loss-
AC110275.1-
-
-
-
1Loss-
AC112128.1-
-
-
-
3Gain-
AC112504.2-
-
-
-
3Gain-
AC117457.1-
-
-
-
3Gain-
AC119396.1-
-
-
-
1Loss-
AC124312.1-
-
-
-
1Loss-
AC131160.1-
-
-
-
3Gain-
AC134980.3-
-
-
-
1Loss-
AC135068.1-
-
-
-
1Loss-
AC135068.3-
-
-
-
1Loss-
AC138647.1-
-
-
-
3Gain-
AC138696.1-
-
-
-
3Gain-
AC144573.1-
-
-
-
1Loss-
ACAA1-
-
-
-
1Loss-
ACAA2-
-
-
-
1Loss-
ACAD11-
-
-
-
3Gain-
ACAD9-
-
-
-
3Gain-
ACAP2-
-
-
-
3Gain-
ACCS-
-
-
-
1Loss-
ACCSL-
-
-
-
1Loss-
ACER1-
-
-
-
1Loss-
ACER2-
-
-
-
1Loss-
ACIN1-
-
-
-
1Loss-
ACKR2-
-
-
-
1Loss-
ACKR4-
-
-
-
3Gain-
ACO1-
-
-
-
1Loss-
ACOX2-
-
-
-
1Loss-
ACP1-
-
-
-
3Gain-
ACP2-
-
-
-
1Loss-
ACP5-
-
-
-
1Loss-
ACPP-
-
-
-
3Gain-
ACSBG2-
-
-
-
1Loss-
ACTC1-
-
-
-
1Loss-
ACTG1p.R312S
Missense
SNP
0.429
2--
ACTL6A-
-
-
-
3Gain-
ACTL7A-
-
-
-
1Loss-
ACTL7B-
-
-
-
1Loss-
ACTL9-
-
-
-
1Loss-
ACTR2-
-
-
-
3Gain-
ACTR8-
-
-
-
1Loss-
ACTRT3-
-
-
-
3Gain-
ACVR2B-
-
-
-
1Loss-
ACY1-
-
-
-
1Loss-
ACYP2-
-
-
-
3Gain-
ADAL-
-
-
-
1Loss-
ADAM10-
-
-
-
1Loss-
ADAM17-
-
-
-
3Gain-
ADAM18-
-
-
-
1Loss-
ADAM2-
-
-
-
1Loss-
ADAM28-
-
-
-
1Loss-
ADAM32p.X606_splice
Splice_Site
SNP
0.974
1Loss-
ADAM7-
-
-
-
1Loss-
ADAM8-
-
-
-
1Loss-
ADAM9-
-
-
-
1Loss-
ADAMDEC1-
-
-
-
1Loss-
ADAMTS10-
-
-
-
1Loss-
ADAMTS13-
-
-
-
1Loss-
ADAMTS20p.W970L
p.M538I
Missense
Missense
SNP
SNP
0.512
0.475
2--
ADAMTS5p.R170C
Missense
SNP
0.061
2--
ADAMTS6p.Y364D
Missense
SNP
0.509
2--
ADAMTS9-
-
-
-
1Loss-
ADAMTSL1-
-
-
-
1Loss-
ADAMTSL2-
-
-
-
1Loss-
ADAMTSL5-
-
-
-
1Loss-
ADAT3-
-
-
-
1Loss-
ADCK5-
-
-
-
3Gain-
ADCY3-
-
-
-
3Gain-
ADCY4-
-
-
-
1Loss-
ADCY5-
-
-
-
3Gain-
ADCY8-
-
-
-
3Gain-
ADD2-
-
-
-
3Gain-
ADGRA1-
-
-
-
1Loss-
ADGRA2-
-
-
-
1Loss-
ADGRB1-
-
-
-
3Gain-
ADGRD2-
-
-
-
1Loss-
ADGRE1-
-
-
-
1Loss-
ADGRE2-
-
-
-
1Loss-
ADGRE3-
-
-
-
1Loss-
ADGRE5-
-
-
-
1Loss-
ADGRF3-
-
-
-
3Gain-
ADGRG6p.L849F
Missense
SNP
0.412
2--
ADGRG7-
-
-
-
3Gain-
ADGRL1-
-
-
-
1Loss-
ADGRL3p.G1461V
Missense
SNP
0.985
2--
ADGRV1p.R1758K
Missense
SNP
0.524
2--
ADHFE1-
-
-
-
3Gain-
ADI1-
-
-
-
3Gain-
ADIPOQ-
-
-
-
3Gain-
ADM-
-
-
-
1Loss-
ADNP2-
-
-
-
1Loss-
ADPGK-
-
-
-
1Loss-
ADPRH-
-
-
-
3Gain-
ADRA1A-
-
-
-
1Loss-
ADRB3-
-
-
-
1Loss-
AES-
-
-
-
1Loss-
AFTPH-
-
-
-
3Gain-
AGAP1p.S22*
Nonsense
SNP
0.418
2--
AGBL2-
-
-
-
1Loss-
AGBL5-
-
-
-
3Gain-
AGO2-
-
-
-
3Gain-
AGPAT2-
-
-
-
1Loss-
AGPAT5-
-
-
-
1Loss-
AGTPBP1-
-
-
-
1Loss-
AGTR1-
-
-
-
3Gain-
AHSG-
-
-
-
3Gain-
AIF1L-
-
-
-
1Loss-
AJM1-
-
-
-
1Loss-
AJUBA-
-
-
-
1Loss-
AK1-
-
-
-
1Loss-
AK3-
-
-
-
1Loss-
AK8-
-
-
-
1Loss-
AKAP2-
-
-
-
1Loss-
AKAP3p.Q207K
Missense
SNP
0.456
2--
AKAP6-
-
-
-
1Loss-
AKAP8-
-
-
-
1Loss-
AKAP8L-
-
-
-
1Loss-
AKIP1-
-
-
-
1Loss-
AKNA-
-
-
-
1Loss-
AL034550.1p.E15Q
Missense
SNP
0.559
NDND-
AL035078.4-
-
-
-
1Loss-
AL049629.2-
-
-
-
1Loss-
AL096870.1-
-
-
-
1Loss-
AL132780.3-
-
-
-
1Loss-
AL133410.3-
-
-
-
1Loss-
AL136295.1-
-
-
-
1Loss-
AL136295.3-
-
-
-
1Loss-
AL136295.4-
-
-
-
1Loss-
AL136295.5-
-
-
-
1Loss-
AL138752.2-
-
-
-
1Loss-
AL139353.1-
-
-
-
1Loss-
AL157935.2-
-
-
-
1Loss-
AL160269.1-
-
-
-
1Loss-
AL160272.2-
-
-
-
1Loss-
AL162231.1-
-
-
-
1Loss-
AL162231.3-
-
-
-
1Loss-
AL162417.1-
-
-
-
1Loss-
AL163195.3-
-
-
-
1Loss-
AL163636.2-
-
-
-
1Loss-
AL355987.1-
-
-
-
1Loss-
AL355987.3-
-
-
-
1Loss-
AL358113.1-
-
-
-
1Loss-
AL359922.1-
-
-
-
1Loss-
AL360181.3-
-
-
-
1Loss-
AL513165.2-
-
-
-
1Loss-
AL672142.1-
-
-
-
1Loss-
AL807752.6-
-
-
-
1Loss-
AL807752.7-
-
-
-
1Loss-
AL929554.1-
-
-
-
1Loss-
ALAD-
-
-
-
1Loss-
ALAS1-
-
-
-
1Loss-
ALCAM-
-
-
-
3Gain-
ALDH1A1-
-
-
-
1Loss-
ALDH1A2-
-
-
-
1Loss-
ALDH1B1-
-
-
-
1Loss-
ALDH1L1-
-
-
-
3Gain-
ALDH4A1p.V470I
Missense
SNP
0.095
2--
ALDOB-
-
-
-
1Loss-
ALG1L-
-
-
-
3Gain-
ALG1L2-
-
-
-
3Gain-
ALG2-
-
-
-
1Loss-
ALG3-
-
-
-
3Gain-
ALK-
-
-
-
3Gain-
ALKAL1-
-
-
-
3Gain-
ALKAL2-
-
-
-
3Gain-
ALKBH3-
-
-
-
1Loss-
ALKBH7-
-
-
-
1Loss-
ALLC-
-
-
-
3Gain-
ALOX12Bp.A91S
Missense
SNP
0.428
2--
ALPK2-
-
-
-
1Loss-
ALS2CL-
-
-
-
1Loss-
ALX4-
-
-
-
1Loss-
AMBP-
-
-
-
1Loss-
AMBRA1-
-
-
-
1Loss-
AMH-
-
-
-
1Loss-
AMIGO3-
-
-
-
1Loss-
AMOTL2-
-
-
-
3Gain-
AMPD3-
-
-
-
1Loss-
AMT-
-
-
-
1Loss-
ANAPC13-
-
-
-
3Gain-
ANAPC2-
-
-
-
1Loss-
ANG-
-
-
-
1Loss-
ANGPT1-
-
-
-
3Gain-
ANGPT2-
-
-
-
1Loss-
ANGPTL2-
-
-
-
1Loss-
ANGPTL4-
-
-
-
1Loss-
ANGPTL6-
-
-
-
1Loss-
ANGPTL8-
-
-
-
1Loss-
ANK1-
-
-
-
1Loss-
ANKDD1A-
-
-
-
1Loss-
ANKLE1p.L238W
Missense
SNP
0.055
1Loss-
ANKRD18A-
-
-
-
1Loss-
ANKRD18B-
-
-
-
1Loss-
ANKRD24-
-
-
-
1Loss-
ANKRD28-
-
-
-
1Loss-
ANKRD36Cp.G845_T848del
In_Frame_Del
DEL
0.429
2--
ANKRD46-
-
-
-
3Gain-
ANKRD53-
-
-
-
3Gain-
ANKRD63-
-
-
-
1Loss-
ANKS6-
-
-
-
1Loss-
ANKUB1-
-
-
-
3Gain-
ANO10-
-
-
-
1Loss-
ANO3-
-
-
-
1Loss-
ANO5-
-
-
-
1Loss-
ANO8-
-
-
-
1Loss-
ANO9-
-
-
-
1Loss-
ANP32A-
-
-
-
1Loss-
ANP32B-
-
-
-
1Loss-
ANTXR1-
-
-
-
3Gain-
ANXA1-
-
-
-
1Loss-
ANXA13-
-
-
-
3Gain-
ANXA2-
-
-
-
1Loss-
ANXA4-
-
-
-
3Gain-
AOAHp.V180L
Missense
SNP
0.397
2--
AOX1-
-
-
-
3Gain-
AP1G2-
-
-
-
1Loss-
AP1M1-
-
-
-
1Loss-
AP1M2-
-
-
-
1Loss-
AP2A2-
-
-
-
1Loss-
AP2M1-
-
-
-
3Gain-
AP3B2p.M365I
Missense
SNP
0.426
2--
AP3D1-
-
-
-
1Loss-
AP3M2-
-
-
-
1Loss-
AP4E1-
-
-
-
1Loss-
AP4S1-
-
-
-
1Loss-
APBA1-
-
-
-
1Loss-
APBA2-
-
-
-
1Loss-
APBA3-
-
-
-
1Loss-
APBB1-
-
-
-
1Loss-
APC2-
-
-
-
1Loss-
APEHp.E91Nfs*3
Frame_Shift_Del
DEL
0.127
1Loss-
APEX1-
-
-
-
1Loss-
APH1B-
-
-
-
1Loss-
API5-
-
-
-
1Loss-
APIP-
-
-
-
1Loss-
APLF-
-
-
-
3Gain-
APOB-
-
-
-
3Gain-
APOD-
-
-
-
3Gain-
APP-
-
-
-
1Loss-
APPL1-
-
-
-
1Loss-
APTX-
-
-
-
1Loss-
AQP3-
-
-
-
1Loss-
AQP4-
-
-
-
10Amp-
AQP7-
-
-
-
1Loss-
AQP9-
-
-
-
1Loss-
AQR-
-
-
-
1Loss-
ARC-
-
-
-
3Gain-
ARF4-
-
-
-
1Loss-
ARF5p.G50C
Missense
SNP
0.460
2--
ARFGAP2-
-
-
-
1Loss-
ARFGEF1-
-
-
-
3Gain-
ARFIP2-
-
-
-
1Loss-
ARGFX-
-
-
-
3Gain-
ARHGAP1-
-
-
-
1Loss-
ARHGAP11A-
-
-
-
1Loss-
ARHGAP11B-
-
-
-
1Loss-
ARHGAP25-
-
-
-
3Gain-
ARHGAP31-
-
-
-
3Gain-
ARHGAP39-
-
-
-
3Gain-
ARHGAP45-
-
-
-
1Loss-
ARHGAP5-
-
-
-
1Loss-
ARHGAP9-
-
-
-
3Gain-
ARHGEF10-
-
-
-
1Loss-
ARHGEF18-
-
-
-
1Loss-
ARHGEF25-
-
-
-
3Gain-
ARHGEF26-
-
-
-
3Gain-
ARHGEF3-
-
-
-
1Loss-
ARHGEF33-
-
-
-
3Gain-
ARHGEF39-
-
-
-
1Loss-
ARHGEF40-
-
-
-
1Loss-
ARID3A-
-
-
-
1Loss-
ARID3B-
-
-
-
1Loss-
ARID3C-
-
-
-
1Loss-
ARIH1-
-
-
-
1Loss-
ARIH2-
-
-
-
1Loss-
ARIH2OS-
-
-
-
1Loss-
ARL13B-
-
-
-
3Gain-
ARL14-
-
-
-
3Gain-
ARL14EP-
-
-
-
1Loss-
ARL6-
-
-
-
3Gain-
ARL6IP5-
-
-
-
1Loss-
ARL8B-
-
-
-
1Loss-
ARMC1-
-
-
-
3Gain-
ARMC6-
-
-
-
1Loss-
ARMC8-
-
-
-
3Gain-
ARNTL-
-
-
-
1Loss-
ARPC2p.H252L
Missense
SNP
0.498
2--
ARPC4-
-
-
-
1Loss-
ARPC4-TTLL3-
-
-
-
1Loss-
ARPC5L-
-
-
-
1Loss-
ARPP19-
-
-
-
1Loss-
ARPP21-
-
-
-
1Loss-
ARRB1p.P14S
Missense
SNP
0.446
2--
ARRDC1-
-
-
-
1Loss-
ARRDC2-
-
-
-
1Loss-
ARRDC5-
-
-
-
1Loss-
ART1-
-
-
-
1Loss-
ART5-
-
-
-
1Loss-
ASAH1-
-
-
-
1Loss-
ASAP1-
-
-
-
3Gain-
ASAP2-
-
-
-
3Gain-
ASB14-
-
-
-
1Loss-
ASB3-
-
-
-
3Gain-
ASB6-
-
-
-
1Loss-
ASCL2-
-
-
-
1Loss-
ASCL3-
-
-
-
1Loss-
ASF1B-
-
-
-
1Loss-
ASH1L-
-
-
-
2-ASH1L--RNA5-8SN2
ASH2L-
-
-
-
1Loss-
ASNA1-
-
-
-
1Loss-
ASPH-
-
-
-
3Gain-
ASPMp.K2253N
Missense
SNP
0.440
2--
ASPN-
-
-
-
1Loss-
ASPRV1-
-
-
-
3Gain-
ASS1-
-
-
-
1Loss-
ASTE1-
-
-
-
3Gain-
ASTN2-
-
-
-
1Loss-
ASXL2-
-
-
-
3Gain-
ASXL3p.K1136N
Missense
SNP
0.062
13Amp-
ATAD2-
-
-
-
3Gain-
ATAD2B-
-
-
-
3Gain-
ATCAYp.V218I
Missense
SNP
0.065
1Loss-
ATG13-
-
-
-
1Loss-
ATG3-
-
-
-
3Gain-
ATG4D-
-
-
-
1Loss-
ATG7-
-
-
-
1Loss-
ATL2-
-
-
-
3Gain-
ATN1p.Y628C
p.X765_splice
Missense
Splice_Site
SNP
SNP
0.503
0.484
2--
ATP10Ap.A509S
Missense
SNP
0.963
1Loss-
ATP11B-
-
-
-
3Gain-
ATP13A1-
-
-
-
1Loss-
ATP13A3-
-
-
-
3Gain-
ATP13A4-
-
-
-
3Gain-
ATP13A5-
-
-
-
3Gain-
ATP1B3-
-
-
-
3Gain-
ATP2B2-
-
-
-
1Loss-
ATP2C1-
-
-
-
3Gain-
ATP5F1A-
-
-
-
1Loss-
ATP5F1D-
-
-
-
1Loss-
ATP6V0D2-
-
-
-
3Gain-
ATP6V1A-
-
-
-
3Gain-
ATP6V1B1-
-
-
-
3Gain-
ATP6V1B2-
-
-
-
1Loss-
ATP6V1C1-
-
-
-
3Gain-
ATP6V1C2-
-
-
-
3Gain-
ATP6V1E2-
-
-
-
3Gain-
ATP6V1G1-
-
-
-
1Loss-
ATP6V1H-
-
-
-
3Gain-
ATP8B1-
-
-
-
1Loss-
ATP8B3-
-
-
-
1Loss-
ATP8B4-
-
-
-
1Loss-
ATP9B-
-
-
-
1Loss-
ATR-
-
-
-
3Gain-
ATRAID-
-
-
-
3Gain-
ATRIP-
-
-
-
1Loss-
ATXN1p.Q213H
Missense
SNP
0.184
2--
ATXN7-
-
-
-
1Loss-
AUH-
-
-
-
1Loss-
AVEN-
-
-
-
1Loss-
AVL9p.R427L
Missense
SNP
0.442
2--
AZI2-
-
-
-
1Loss-
AZIN1-
-
-
-
3Gain-
AZU1-
-
-
-
1Loss-
B2M-
-
-
-
1Loss-
B3GALNT1-
-
-
-
3Gain-
B3GALT1p.L23F
Missense
SNP
0.494
2--
B3GAT3p.G172R
Missense
SNP
0.465
2--
B3GNT2-
-
-
-
3Gain-
B3GNT3-
-
-
-
1Loss-
B3GNT5-
-
-
-
3Gain-
B4GALNT1-
-
-
-
3Gain-
B4GALNT4p.A99Gfs*29
Frame_Shift_Ins
INS
0.077
1Loss-
B4GALT1-
-
-
-
1Loss-
B4GALT4-
-
-
-
3Gain-
B4GALT6-
-
-
-
13Amp-
BAALC-
-
-
-
3Gain-
BAAT-
-
-
-
1Loss-
BABAM1-
-
-
-
1Loss-
BABAM2-
-
-
-
3Gain-
BAG1-
-
-
-
1Loss-
BAG4-
-
-
-
1Loss-
BAHD1-
-
-
-
1Loss-
BAP1-
-
-
-
1Loss-
BARHL1-
-
-
-
1Loss-
BARX1-
-
-
-
1Loss-
BAZ1Ap.R1428Q
Missense
SNP
0.506
2--
BBOX1-
-
-
-
1Loss-
BBS4-
-
-
-
1Loss-
BBX-
-
-
-
3Gain-
BCHE-
-
-
-
3Gain-
BCL11A-
-
-
-
3Gain-
BCL2-
-
-
-
1Loss-
BCL2L10-
-
-
-
1Loss-
BCL2L2-
-
-
-
1Loss-
BCL2L2-PABPN1-
-
-
-
1Loss-
BCL6-
-
-
-
3Gain-
BCO2p.C329G
Missense
SNP
0.466
2--
BDH1-
-
-
-
3Gain-
BDNF-
-
-
-
1Loss-
BEST2-
-
-
-
1Loss-
BET1L-
-
-
-
1Loss-
BFSP2-
-
-
-
3Gain-
BGNp.D78E
Missense
SNP
0.977
NDND-
BHLHE22p.A181D
Missense
SNP
0.259
3Gain-
BHLHE40-
-
-
-
1Loss-
BICD2-
-
-
-
1Loss-
BIN3-
-
-
-
1Loss-
BIRC6-
-
-
-
3Gain-
BLK-
-
-
-
1Loss-
BLOC1S6-
-
-
-
1Loss-
BMF-
-
-
-
1Loss-
BMP1-
-
-
-
1Loss-
BMP10-
-
-
-
3Gain-
BNC2-
-
-
-
1Loss-
BNIP2-
-
-
-
1Loss-
BNIP3L-
-
-
-
1Loss-
BOC-
-
-
-
3Gain-
BOD1L2-
-
-
-
1Loss-
BOP1p.D75H
p.E23Q
Missense
Missense
SNP
SNP
0.190
0.220
3Gain-
BORCS8-
-
-
-
1Loss-
BORCS8-MEF2B-
-
-
-
1Loss-
BRD3-
-
-
-
1Loss-
BRD4-
-
-
-
1Loss-
BRDTp.T717R
Missense
SNP
0.418
2--
BRF2-
-
-
-
1Loss-
BRINP1-
-
-
-
1Loss-
BRINP2p.P611S
Missense
SNP
0.507
2--
BRK1-
-
-
-
1Loss-
BRPF1-
-
-
-
1Loss-
BRSK1p.A197T
Missense
SNP
0.961
2--
BRSK2-
-
-
-
1Loss-
BSG-
-
-
-
1Loss-
BSN-
-
-
-
1Loss-
BSPRY-
-
-
-
1Loss-
BST2-
-
-
-
1Loss-
BTBD10-
-
-
-
1Loss-
BTBD2-
-
-
-
1Loss-
BTD-
-
-
-
1Loss-
BTKp.D613G
Missense
SNP
0.945
NDND-
BTLA-
-
-
-
3Gain-
BUB1B-
-
-
-
1Loss-
BUB1B-PAK6-
-
-
-
1Loss-
C10orf120p.K128N
Missense
SNP
0.519
2--
C11orf16-
-
-
-
1Loss-
C11orf21-
-
-
-
1Loss-
C11orf40-
-
-
-
1Loss-
C11orf42-
-
-
-
1Loss-
C11orf49-
-
-
-
1Loss-
C11orf58-
-
-
-
1Loss-
C11orf74-
-
-
-
1Loss-
C11orf91-
-
-
-
1Loss-
C11orf94-
-
-
-
1Loss-
C11orf96-
-
-
-
1Loss-
C14orf119-
-
-
-
1Loss-
C14orf93-
-
-
-
1Loss-
C15orf39-
-
-
-
1Loss-
C15orf41-
-
-
-
1Loss-
C15orf48-
-
-
-
1Loss-
C15orf53-
-
-
-
1Loss-
C15orf61-
-
-
-
1Loss-
C15orf62-
-
-
-
1Loss-
C15orf65-
-
-
-
1Loss-
C18orf21-
-
-
-
1Loss-
C18orf25-
-
-
-
1Loss-
C18orf32-
-
-
-
1Loss-
C18orf54-
-
-
-
1Loss-
C18orf63-
-
-
-
1Loss-
C19orf24-
-
-
-
1Loss-
C19orf25-
-
-
-
1Loss-
C19orf38-
-
-
-
1Loss-
C19orf44-
-
-
-
1Loss-
C19orf53-
-
-
-
1Loss-
C19orf57-
-
-
-
1Loss-
C19orf66-
-
-
-
1Loss-
C19orf67-
-
-
-
1Loss-
C19orf70-
-
-
-
1Loss-
C19orf71-
-
-
-
1Loss-
C1D-
-
-
-
3Gain-
C1GALT1C1L-
-
-
-
3Gain-
C1orf68-
-
-
-
3Gain-
C1QTNF4-
-
-
-
1Loss-
C2CD4A-
-
-
-
1Loss-
C2CD4B-
-
-
-
1Loss-
C2CD4C-
-
-
-
1Loss-
C2orf16-
-
-
-
3Gain-
C2orf42-
-
-
-
3Gain-
C2orf50-
-
-
-
3Gain-
C2orf70-
-
-
-
3Gain-
C2orf73-
-
-
-
3Gain-
C2orf74-
-
-
-
3Gain-
C2orf78p.Q196L
Missense
SNP
0.439
2--
C2orf91-
-
-
-
3Gain-
C3-
-
-
-
1Loss-
C3orf14-
-
-
-
1Loss-
C3orf18-
-
-
-
1Loss-
C3orf20-
-
-
-
1Loss-
C3orf22-
-
-
-
3Gain-
C3orf30-
-
-
-
3Gain-
C3orf33-
-
-
-
3Gain-
C3orf38-
-
-
-
1Loss-
C3orf49-
-
-
-
1Loss-
C3orf52-
-
-
-
3Gain-
C3orf56-
-
-
-
3Gain-
C3orf58-
-
-
-
3Gain-
C3orf62-
-
-
-
1Loss-
C3orf67-
-
-
-
1Loss-
C3orf70-
-
-
-
3Gain-
C3orf80-
-
-
-
3Gain-
C3orf84-
-
-
-
1Loss-
C3orf85-
-
-
-
3Gain-
C5-
-
-
-
1Loss-
C8Ap.H465Q
Missense
SNP
0.519
2--
C8G-
-
-
-
1Loss-
C8orf33-
-
-
-
3Gain-
C8orf34p.S244C
Missense
SNP
0.258
3Gain-
C8orf37-
-
-
-
3Gain-
C8orf44-
-
-
-
3Gain-
C8orf48-
-
-
-
1Loss-
C8orf58-
-
-
-
1Loss-
C8orf59-
-
-
-
3Gain-
C8orf74-
-
-
-
1Loss-
C8orf76-
-
-
-
3Gain-
C8orf82-
-
-
-
3Gain-
C8orf86-
-
-
-
1Loss-
C8orf88-
-
-
-
3Gain-
C8orf89-
-
-
-
3Gain-
C9orf116-
-
-
-
1Loss-
C9orf129-
-
-
-
1Loss-
C9orf131-
-
-
-
1Loss-
C9orf135-
-
-
-
1Loss-
C9orf152-
-
-
-
1Loss-
C9orf153-
-
-
-
1Loss-
C9orf16-
-
-
-
1Loss-
C9orf24-
-
-
-
1Loss-
C9orf3-
-
-
-
1Loss-
C9orf40-
-
-
-
1Loss-
C9orf43-
-
-
-
1Loss-
C9orf50-
-
-
-
1Loss-
C9orf57-
-
-
-
1Loss-
C9orf64-
-
-
-
1Loss-
C9orf66-
-
-
-
1Loss-
C9orf72p.A63Cfs*27
Frame_Shift_Ins
INS
0.478
1Loss-
C9orf78-
-
-
-
1Loss-
C9orf84-
-
-
-
1Loss-
C9orf85-
-
-
-
1Loss-
C9orf92-
-
-
-
1Loss-
CA1-
-
-
-
3Gain-
CA12-
-
-
-
1Loss-
CA13-
-
-
-
3Gain-
CA2-
-
-
-
3Gain-
CA3-
-
-
-
3Gain-
CA8-
-
-
-
3Gain-
CA9-
-
-
-
1Loss-
CAAP1-
-
-
-
1Loss-
CACFD1-
-
-
-
1Loss-
CACNA1A-
-
-
-
1Loss-
CACNA1B-
-
-
-
1Loss-
CACNA1D-
-
-
-
1Loss-
CACNA2D2-
-
-
-
1Loss-
CACNA2D3-
-
-
-
1Loss-
CACTIN-
-
-
-
1Loss-
CAD-
-
-
-
3Gain-
CADM2-
-
-
-
1Loss-
CADPS-
-
-
-
1Loss-
CALB1-
-
-
-
3Gain-
CALCA-
-
-
-
1Loss-
CALCB-
-
-
-
1Loss-
CALM2-
-
-
-
3Gain-
CALML4-
-
-
-
1Loss-
CALR-
-
-
-
1Loss-
CALR3-
-
-
-
1Loss-
CALY-
-
-
-
1Loss-
CAMK1-
-
-
-
1Loss-
CAMK2N2-
-
-
-
3Gain-
CAMKMT-
-
-
-
3Gain-
CAMKV-
-
-
-
1Loss-
CAMP-
-
-
-
1Loss-
CAMSAP1-
-
-
-
1Loss-
CAMSAP3-
-
-
-
1Loss-
CAND1p.P724S
Missense
SNP
0.456
2--
CAND2-
-
-
-
1Loss-
CAPN13-
-
-
-
3Gain-
CAPN14-
-
-
-
3Gain-
CAPN3-
-
-
-
1Loss-
CAPN7-
-
-
-
1Loss-
CAPRIN1-
-
-
-
1Loss-
CAPS-
-
-
-
1Loss-
CARD19-
-
-
-
1Loss-
CARD9-
-
-
-
1Loss-
CARM1-
-
-
-
1Loss-
CARMIL3-
-
-
-
1Loss-
CARNMT1-
-
-
-
1Loss-
CARS-
-
-
-
1Loss-
CARS2p.E144V
Missense
SNP
0.889
2--
CASC4-
-
-
-
1Loss-
CASP14-
-
-
-
1Loss-
CASP2p.D137Y
Missense
SNP
0.455
2--
CASR-
-
-
-
3Gain-
CAT-
-
-
-
1Loss-
CATSPER2-
-
-
-
0Del-
CATSPERD-
-
-
-
1Loss-
CAV3-
-
-
-
1Loss-
CAVIN3-
-
-
-
1Loss-
CAVIN4-
-
-
-
1Loss-
CBARP-
-
-
-
1Loss-
CBLB-
-
-
-
3Gain-
CBLN2-
-
-
-
1Loss-
CBLN3-
-
-
-
1Loss-
CBSL-
-
-
-
1Loss-
CBWD1-
-
-
-
1Loss-
CBWD3-
-
-
-
1Loss-
CBWD5-
-
-
-
1Loss-
CBWD6-
-
-
-
1Loss-
CC2D1A-
-
-
-
1Loss-
CCAR2-
-
-
-
1Loss-
CCBE1-
-
-
-
1Loss-
CCDC102B-
-
-
-
1Loss-
CCDC105-
-
-
-
1Loss-
CCDC107-
-
-
-
1Loss-
CCDC12-
-
-
-
1Loss-
CCDC121-
-
-
-
3Gain-
CCDC124-
-
-
-
1Loss-
CCDC13-
-
-
-
1Loss-
CCDC130-
-
-
-
1Loss-
CCDC14-
-
-
-
3Gain-
CCDC151-
-
-
-
1Loss-
CCDC159-
-
-
-
1Loss-
CCDC166-
-
-
-
3Gain-
CCDC171-
-
-
-
1Loss-
CCDC174-
-
-
-
1Loss-
CCDC178-
-
-
-
13Amp-
CCDC179-
-
-
-
1Loss-
CCDC180-
-
-
-
1Loss-
CCDC183-
-
-
-
1Loss-
CCDC191-
-
-
-
3Gain-
CCDC194-
-
-
-
1Loss-
CCDC25-
-
-
-
1Loss-
CCDC32-
-
-
-
1Loss-
CCDC33-
-
-
-
1Loss-
CCDC34-
-
-
-
1Loss-
CCDC36-
-
-
-
1Loss-
CCDC39-
-
-
-
3Gain-
CCDC50-
-
-
-
3Gain-
CCDC51-
-
-
-
1Loss-
CCDC54-
-
-
-
3Gain-
CCDC58-
-
-
-
3Gain-
CCDC59p.P114A
Missense
SNP
0.440
2--
CCDC66-
-
-
-
1Loss-
CCDC68-
-
-
-
1Loss-
CCDC71-
-
-
-
1Loss-
CCDC73-
-
-
-
1Loss-
CCDC80-
-
-
-
3Gain-
CCDC85A-
-
-
-
3Gain-
CCDC88A-
-
-
-
3Gain-
CCDC9B-
-
-
-
1Loss-
CCIN-
-
-
-
1Loss-
CCK-
-
-
-
1Loss-
CCKBR-
-
-
-
1Loss-
CCL19-
-
-
-
1Loss-
CCL21-
-
-
-
1Loss-
CCL25-
-
-
-
1Loss-
CCL27-
-
-
-
1Loss-
CCNB1IP1p.F32L
Missense
SNP
0.985
1Loss-
CCNB2-
-
-
-
1Loss-
CCND3p.P284L
Missense
SNP
0.057
2--
CCNDBP1-
-
-
-
1Loss-
CCNE2-
-
-
-
3Gain-
CCNL1-
-
-
-
3Gain-
CCPG1-
-
-
-
1Loss-
CCR1-
-
-
-
1Loss-
CCR2-
-
-
-
1Loss-
CCR3-
-
-
-
1Loss-
CCR4-
-
-
-
1Loss-
CCR5-
-
-
-
1Loss-
CCR8-
-
-
-
1Loss-
CCR9-
-
-
-
1Loss-
CCRL2-
-
-
-
1Loss-
CCT4-
-
-
-
3Gain-
CD151-
-
-
-
1Loss-
CD1Ep.R207W
Missense
SNP
0.096
2--
CD200-
-
-
-
3Gain-
CD200R1-
-
-
-
3Gain-
CD200R1L-
-
-
-
3Gain-
CD207-
-
-
-
3Gain-
CD209-
-
-
-
1Loss-
CD226-
-
-
-
1Loss-
CD274-
-
-
-
1Loss-
CD276-
-
-
-
1Loss-
CD300Ep.S17Y
Missense
SNP
0.391
2--
CD320-
-
-
-
1Loss-
CD44-
-
-
-
1Loss-
CD47-
-
-
-
3Gain-
CD59-
-
-
-
1Loss-
CD70-
-
-
-
1Loss-
CD72-
-
-
-
1Loss-
CD80-
-
-
-
3Gain-
CD81-
-
-
-
1Loss-
CD82-
-
-
-
1Loss-
CD86-
-
-
-
3Gain-
CD96-
-
-
-
3Gain-
CDAN1-
-
-
-
1Loss-
CDC14B-
-
-
-
1Loss-
CDC25A-
-
-
-
1Loss-
CDC26-
-
-
-
1Loss-
CDC34-
-
-
-
1Loss-
CDC37-
-
-
-
1Loss-
CDC37L1-
-
-
-
1Loss-
CDC42EP3-
-
-
-
3Gain-
CDCA2-
-
-
-
1Loss-
CDCP1-
-
-
-
1Loss-
CDH10p.R43S
Missense
SNP
0.499
2--
CDH17-
-
-
-
3Gain-
CDH18p.V478I
Missense
SNP
0.407
2--
CDH19-
-
-
-
1Loss-
CDH2-
-
-
-
10Amp-
CDH20-
-
-
-
1Loss-
CDH24-
-
-
-
1Loss-
CDH7-
-
-
-
1Loss-
CDH8p.E383G
p.R126L
Missense
Missense
SNP
SNP
0.471
0.460
2--
CDHR4-
-
-
-
1Loss-
CDHR5-
-
-
-
1Loss-
CDK12p.X870_splice
Splice_Site
SNP
0.440
2--
CDK13p.I755V
Missense
SNP
0.516
2--
CDK20-
-
-
-
1Loss-
CDK5RAP2-
-
-
-
1Loss-
CDK9-
-
-
-
1Loss-
CDKL4-
-
-
-
3Gain-
CDKN1C-
-
-
-
1Loss-
CDKN2A-
-
-
-
1Loss-
CDKN2B-
-
-
-
1Loss-
CDKN2D-
-
-
-
1Loss-
CDONp.T1098S
Missense
SNP
0.491
2--
CDV3-
-
-
-
3Gain-
CEBPD-
-
-
-
3Gain-
CEBPE-
-
-
-
1Loss-
CEBPZ-
-
-
-
3Gain-
CEBPZOS-
-
-
-
3Gain-
CECR1p.F355S
Missense
SNP
0.435
NDND-
CEL-
-
-
-
1Loss-
CELF1-
-
-
-
1Loss-
CELF4-
-
-
-
1Loss-
CELF5-
-
-
-
1Loss-
CELF6-
-
-
-
1Loss-
CELSR2p.L65F
Missense
SNP
0.403
2--
CELSR3-
-
-
-
1Loss-
CEMIP2-
-
-
-
1Loss-
CEND1-
-
-
-
1Loss-
CENPA-
-
-
-
3Gain-
CENPO-
-
-
-
3Gain-
CENPP-
-
-
-
1Loss-
CEP152-
-
-
-
1Loss-
CEP19-
-
-
-
3Gain-
CEP63-
-
-
-
3Gain-
CEP68-
-
-
-
3Gain-
CEP70-
-
-
-
3Gain-
CEP76p.S517Y
Missense
SNP
0.443
2--
CEP78-
-
-
-
1Loss-
CEP97-
-
-
-
3Gain-
CER1-
-
-
-
1Loss-
CERCAM-
-
-
-
1Loss-
CERS1-
-
-
-
1Loss-
CERS4-
-
-
-
1Loss-
CFAP100-
-
-
-
3Gain-
CFAP157-
-
-
-
1Loss-
CFAP36-
-
-
-
3Gain-
CFAP44-
-
-
-
3Gain-
CFAP46-
-
-
-
1Loss-
CFAP47p.S16Y
p.K632N
Missense
Missense
SNP
SNP
0.995
1.000
NDND-
CFAP53-
-
-
-
1Loss-
CFAP54p.C1823G
Missense
SNP
0.536
2--
CFAP77-
-
-
-
1Loss-
CFD-
-
-
-
1Loss-
CFHR2p.R85G
Missense
SNP
0.359
2--
CFHR4p.E348V
Missense
SNP
0.369
2--
CFHR5p.M514R
Missense
SNP
0.051
2--
CGGBP1-
-
-
-
1Loss-
CGNL1-
-
-
-
1Loss-
CGREF1-
-
-
-
3Gain-
CHAC1-
-
-
-
1Loss-
CHAC2-
-
-
-
3Gain-
CHAF1A-
-
-
-
1Loss-
CHCHD4-
-
-
-
1Loss-
CHCHD6-
-
-
-
3Gain-
CHCHD7-
-
-
-
3Gain-
CHD7p.D2249Y
Missense
SNP
0.276
3Gain-
CHD8-
-
-
-
1Loss-
CHDH-
-
-
-
1Loss-
CHERP-
-
-
-
1Loss-
CHID1-
-
-
-
1Loss-
CHL1-
-
-
-
1Loss-
CHMP2B-
-
-
-
1Loss-
CHMP4A-
-
-
-
1Loss-
CHMP4C-
-
-
-
3Gain-
CHMP5-
-
-
-
1Loss-
CHMP7-
-
-
-
1Loss-
CHP1-
-
-
-
1Loss-
CHRAC1-
-
-
-
3Gain-
CHRD-
-
-
-
3Gain-
CHRFAM7A-
-
-
-
1Loss-
CHRM4-
-
-
-
1Loss-
CHRM5-
-
-
-
1Loss-
CHRNA10-
-
-
-
1Loss-
CHRNA2-
-
-
-
1Loss-
CHRNA4p.C161S
Missense
SNP
0.394
2--
CHRNA6-
-
-
-
1Loss-
CHRNA7-
-
-
-
1Loss-
CHRNB3-
-
-
-
1Loss-
CHST1-
-
-
-
1Loss-
CHST13p.S79G
Missense
SNP
0.056
3Gain-
CHST14-
-
-
-
1Loss-
CHST2-
-
-
-
3Gain-
CHST9-
-
-
-
10Amp-
CIAO2A-
-
-
-
1Loss-
CIB3-
-
-
-
1Loss-
CIB4-
-
-
-
3Gain-
CIDEB-
-
-
-
1Loss-
CIDEC-
-
-
-
1Loss-
CILP-
-
-
-
1Loss-
CILP2-
-
-
-
1Loss-
CIP2A-
-
-
-
3Gain-
CIRBP-
-
-
-
1Loss-
CISH-
-
-
-
1Loss-
CIZ1-
-
-
-
1Loss-
CKAP5-
-
-
-
1Loss-
CKMT1A-
-
-
-
1Loss-
CKMT1B-
-
-
-
1Loss-
CKS2-
-
-
-
1Loss-
CLASP2-
-
-
-
1Loss-
CLCN2-
-
-
-
3Gain-
CLDN1-
-
-
-
3Gain-
CLDN11-
-
-
-
3Gain-
CLDN16-
-
-
-
3Gain-
CLDN18-
-
-
-
3Gain-
CLDN23-
-
-
-
1Loss-
CLDND1-
-
-
-
3Gain-
CLEC17A-
-
-
-
1Loss-
CLEC18A-
-
-
-
1LossWWP2--CLEC18A
CLEC3B-
-
-
-
1Loss-
CLEC4F-
-
-
-
3Gain-
CLEC4G-
-
-
-
1Loss-
CLEC4M-
-
-
-
1Loss-
CLHC1-
-
-
-
3Gain-
CLIC3-
-
-
-
1Loss-
CLIP4-
-
-
-
3Gain-
CLK3-
-
-
-
1Loss-
CLN6-
-
-
-
1Loss-
CLN8-
-
-
-
1Loss-
CLPP-
-
-
-
1Loss-
CLPX-
-
-
-
1Loss-
CLRN1-
-
-
-
3Gain-
CLSTN2p.G704W
Missense
SNP
0.589
3Gain-
CLTA-
-
-
-
1Loss-
CLTCp.F1519L
Missense
SNP
0.455
2--
CLU-
-
-
-
1Loss-
CLVS1-
-
-
-
3Gain-
CMA1-
-
-
-
1Loss-
CMC1-
-
-
-
1Loss-
CMPK2-
-
-
-
3Gain-
CMSS1-
-
-
-
3Gain-
CMTM5-
-
-
-
1Loss-
CMTM6-
-
-
-
1Loss-
CMTM7-
-
-
-
1Loss-
CMTM8-
-
-
-
1Loss-
CNBD1p.S57R
Missense
SNP
0.630
3Gain-
CNBP-
-
-
-
3Gain-
CNDP1-
-
-
-
1Loss-
CNDP2-
-
-
-
1Loss-
CNGA4-
-
-
-
1Loss-
CNGB3-
-
-
-
3Gain-
CNN1-
-
-
-
1Loss-
CNN2-
-
-
-
1Loss-
CNOT10-
-
-
-
1Loss-
CNOT7-
-
-
-
1Loss-
CNRIP1-
-
-
-
3Gain-
CNTFR-
-
-
-
1Loss-
CNTLN-
-
-
-
1Loss-
CNTN3-
-
-
-
1Loss-
CNTN4-
-
-
-
1Loss-
CNTN5p.G755R
Missense
SNP
0.451
2--
CNTN6-
-
-
-
1Loss-
CNTNAP3-
-
-
-
1Loss-
CNTNAP3B-
-
-
-
1Loss-
CNTNAP3C-
-
-
-
1Loss-
CNTNAP5p.I205T
Missense
SNP
0.437
2--
CNTRL-
-
-
-
1Loss-
COBLp.V664I
Missense
SNP
0.076
2--
COCH-
-
-
-
1Loss-
COL11A1p.G1297E
p.G1132C
p.X437_splice
Missense
Missense
Splice_Site
SNP
SNP
SNP
0.414
0.452
0.465
2--
COL14A1-
-
-
-
3Gain-
COL15A1-
-
-
-
1Loss-
COL22A1p.G852V
Missense
SNP
0.333
3Gain-
COL27A1-
-
-
-
1Loss-
COL3A1-
-
-
-
3Gain-
COL5A1p.P1436L
Missense
SNP
0.130
1Loss-
COL5A2-
-
-
-
3Gain-
COL5A3-
-
-
-
1Loss-
COL6A3p.R3011K
Missense
SNP
0.519
2--
COL6A5-
-
-
-
3Gain-
COL6A6-
-
-
-
3Gain-
COL7A1-
-
-
-
1Loss-
COL8A1-
-
-
-
3Gain-
COLEC10-
-
-
-
3Gain-
COLEC11-
-
-
-
3Gain-
COLGALT1-
-
-
-
1Loss-
COLQ-
-
-
-
1Loss-
COMMD1-
-
-
-
3Gain-
COMMD2-
-
-
-
3Gain-
COMMD4-
-
-
-
1Loss-
COMMD5-
-
-
-
3Gain-
COMMD9-
-
-
-
1Loss-
COMP-
-
-
-
1Loss-
COPB1-
-
-
-
1Loss-
COPB2-
-
-
-
3Gain-
COPE-
-
-
-
1Loss-
COPG1-
-
-
-
3Gain-
COPS2-
-
-
-
1Loss-
COPS5-
-
-
-
3Gain-
COQ4-
-
-
-
1Loss-
CORO1Bp.S10R
Missense
SNP
0.476
2--
CORO2A-
-
-
-
1Loss-
CORO2B-
-
-
-
1Loss-
COX17-
-
-
-
3Gain-
COX5A-
-
-
-
1Loss-
COX6C-
-
-
-
3Gain-
COX7A2L-
-
-
-
3Gain-
CP-
-
-
-
3Gain-
CPA3-
-
-
-
3Gain-
CPA6-
-
-
-
3Gain-
CPAMD8-
-
-
-
1Loss-
CPB1-
-
-
-
3Gain-
CPLX3-
-
-
-
1Loss-
CPLX4-
-
-
-
1Loss-
CPN2-
-
-
-
3Gain-
CPNE3-
-
-
-
3Gain-
CPNE4-
-
-
-
3Gain-
CPNE6-
-
-
-
1Loss-
CPNE9-
-
-
-
1Loss-
CPOX-
-
-
-
3Gain-
CPQ-
-
-
-
3Gain-
CPSF1-
-
-
-
3Gain-
CPSF3-
-
-
-
3Gain-
CPXM1p.M486I
Missense
SNP
0.496
2--
CR1p.V190L
Missense
SNP
0.565
2--
CR2p.Y1066F
Missense
SNP
0.449
2--
CRACR2B-
-
-
-
1Loss-
CRAT-
-
-
-
1Loss-
CRB2-
-
-
-
1Loss-
CRB3-
-
-
-
1Loss-
CRBN-
-
-
-
1Loss-
CRCT1-
-
-
-
3Gain-
CREB3-
-
-
-
1Loss-
CREB3L1-
-
-
-
1Loss-
CREB3L3-
-
-
-
1Loss-
CRELD1-
-
-
-
1Loss-
CRH-
-
-
-
3Gain-
CRIM1-
-
-
-
3Gain-
CRIPT-
-
-
-
3Gain-
CRISPLD1-
-
-
-
3Gain-
CRLF1-
-
-
-
1Loss-
CRNN-
-
-
-
3Gain-
CRTAP-
-
-
-
1Loss-
CRTC1-
-
-
-
1Loss-
CRY2-
-
-
-
1Loss-
CRYAA2-
-
-
-
1Loss-
CRYBG3-
-
-
-
3Gain-
CRYGS-
-
-
-
3Gain-
CSGALNACT1-
-
-
-
1Loss-
CSK-
-
-
-
1Loss-
CSMD1p.L664M
Missense
SNP
0.971
1Loss-
CSMD3-
-
-
-
3Gain-
CSNK1A1Lp.Q308K
p.P244S
Missense
Missense
SNP
SNP
0.929
0.954
2--
CSNK1G1-
-
-
-
1Loss-
CSNK1G2-
-
-
-
1Loss-
CSNK2A3-
-
-
-
1Loss-
CSPG4-
-
-
-
1Loss-
CSPG5-
-
-
-
1Loss-
CSPP1-
-
-
-
3Gain-
CSRNP1-
-
-
-
1Loss-
CSRP3-
-
-
-
1Loss-
CSTA-
-
-
-
3Gain-
CSTF3-
-
-
-
1Loss-
CT62-
-
-
-
1Loss-
CTDP1-
-
-
-
1Loss-
CTDSPL-
-
-
-
1Loss-
CTDSPL2-
-
-
-
1Loss-
CTHRC1-
-
-
-
3Gain-
CTIF-
-
-
-
1Loss-
CTNNA2p.R53M
Missense
SNP
0.414
2--
CTNNAL1-
-
-
-
1Loss-
CTNNB1-
-
-
-
1Loss-
CTNND2p.T37A
Missense
SNP
0.416
2--
CTR9-
-
-
-
1Loss-
CTSB-
-
-
-
1Loss-
CTSD-
-
-
-
1Loss-
CTSG-
-
-
-
1Loss-
CTSL-
-
-
-
1Loss-
CTSV-
-
-
-
1Loss-
CTXN1-
-
-
-
1Loss-
CTXN2-
-
-
-
1Loss-
CX3CR1-
-
-
-
1Loss-
CXCR6-
-
-
-
1Loss-
CXXC1-
-
-
-
1Loss-
CYB561D2-
-
-
-
1Loss-
CYB5A-
-
-
-
1Loss-
CYB5R2-
-
-
-
1Loss-
CYC1-
-
-
-
3Gain-
CYFIP1-
-
-
-
1Loss-
CYHR1-
-
-
-
3Gain-
CYLC2-
-
-
-
1Loss-
CYLDp.R544G
Missense
SNP
0.487
2--
CYP11A1-
-
-
-
1Loss-
CYP11B1-
-
-
-
3Gain-
CYP11B2p.N47S
Missense
SNP
0.270
3Gain-
CYP19A1-
-
-
-
1Loss-
CYP1A1-
-
-
-
1Loss-
CYP1A2-
-
-
-
1Loss-
CYP1B1-
-
-
-
3Gain-
CYP26B1-
-
-
-
3Gain-
CYP2E1-
-
-
-
1Loss-
CYP2J2p.F483L
Missense
SNP
0.475
2--
CYP2R1-
-
-
-
1Loss-
CYP4F11-
-
-
-
1Loss-
CYP4F12-
-
-
-
1Loss-
CYP4F2-
-
-
-
1Loss-
CYP4F22-
-
-
-
1Loss-
CYP4F3-
-
-
-
1Loss-
CYP4F8-
-
-
-
1Loss-
CYP7A1-
-
-
-
3Gain-
CYP7B1-
-
-
-
3Gain-
CYP8B1-
-
-
-
1Loss-
CYS1-
-
-
-
3Gain-
CYSRT1-
-
-
-
1Loss-
DAAM2p.G288V
Missense
SNP
0.503
2--
DAB2IP-
-
-
-
1Loss-
DAD1-
-
-
-
1Loss-
DAG1-
-
-
-
1Loss-
DALRD3-
-
-
-
1Loss-
DAND5-
-
-
-
1Loss-
DAPK1-
-
-
-
1Loss-
DAPK2-
-
-
-
1Loss-
DAPK3-
-
-
-
1Loss-
DAZAP1-
-
-
-
1Loss-
DAZL-
-
-
-
1Loss-
DBH-
-
-
-
1Loss-
DBR1-
-
-
-
3Gain-
DBX1-
-
-
-
1Loss-
DCAF1-
-
-
-
1Loss-
DCAF10-
-
-
-
1Loss-
DCAF11-
-
-
-
1Loss-
DCAF12-
-
-
-
1Loss-
DCAF13-
-
-
-
3Gain-
DCAF15-
-
-
-
1Loss-
DCAF4L2p.M28I
Missense
SNP
0.330
3Gain-
DCBLD2-
-
-
-
3Gain-
DCCp.P1179T
Missense
SNP
0.975
1Loss-
DCDC1-
-
-
-
1Loss-
DCDC2C-
-
-
-
3Gain-
DCHS1-
-
-
-
1Loss-
DCLK3-
-
-
-
1Loss-
DCP1A-
-
-
-
1Loss-
DCSTAMP-
-
-
-
3Gain-
DCTN2-
-
-
-
3Gain-
DCTN3-
-
-
-
1Loss-
DCTN6-
-
-
-
1Loss-
DCUN1D1-
-
-
-
3Gain-
DDA1-
-
-
-
1Loss-
DDB2-
-
-
-
1Loss-
DDHD2-
-
-
-
1Loss-
DDIT3-
-
-
-
3Gain-
DDX1-
-
-
-
3Gain-
DDX31-
-
-
-
1Loss-
DDX39A-
-
-
-
1Loss-
DDX49-
-
-
-
1Loss-
DDX58-
-
-
-
1Loss-
DEAF1-
-
-
-
1Loss-
DEC1-
-
-
-
1Loss-
DECR1-
-
-
-
3Gain-
DEFA4-
-
-
-
1Loss-
DEFA5-
-
-
-
1Loss-
DEFA6-
-
-
-
1Loss-
DEFB1-
-
-
-
1Loss-
DEFB103A-
-
-
-
1Loss-
DEFB103B-
-
-
-
1Loss-
DEFB104A-
-
-
-
1Loss-
DEFB104B-
-
-
-
1Loss-
DEFB105A-
-
-
-
1Loss-
DEFB105B-
-
-
-
1Loss-
DEFB106A-
-
-
-
1Loss-
DEFB106B-
-
-
-
1Loss-
DEFB107A-
-
-
-
1Loss-
DEFB107B-
-
-
-
1Loss-
DEFB134-
-
-
-
1Loss-
DEFB135-
-
-
-
1Loss-
DEFB136-
-
-
-
1Loss-
DEFB4A-
-
-
-
1Loss-
DEFB4B-
-
-
-
1Loss-
DENND1A-
-
-
-
1Loss-
DENND1Cp.L315I
Missense
SNP
0.932
1Loss-
DENND3-
-
-
-
3Gain-
DENND4A-
-
-
-
1Loss-
DENND4C-
-
-
-
1Loss-
DENND5A-
-
-
-
1Loss-
DENND6A-
-
-
-
1Loss-
DEPDC7-
-
-
-
1Loss-
DEPTOR-
-
-
-
3Gain-
DERL1-
-
-
-
3Gain-
DGAT1-
-
-
-
3Gain-
DGKG-
-
-
-
3Gain-
DGKZ-
-
-
-
1Loss-
DHDH-
-
-
-
2-PRR12--DHDH
DHFR2-
-
-
-
3Gain-
DHPS-
-
-
-
1Loss-
DHRS1p.T241I
Missense
SNP
0.083
1Loss-
DHRS2-
-
-
-
1Loss-
DHRS4-
-
-
-
1Loss-
DHRS4L2-
-
-
-
1Loss-
DHX30-
-
-
-
1Loss-
DHX36-
-
-
-
3Gain-
DHX57-
-
-
-
3Gain-
DICER1p.N1915Y
Missense
SNP
0.600
2--
DIRAS1-
-
-
-
1Loss-
DIRAS2-
-
-
-
1Loss-
DIRC2-
-
-
-
3Gain-
DIS3L-
-
-
-
1Loss-
DISP2-
-
-
-
1Loss-
DKK3-
-
-
-
1Loss-
DKK4-
-
-
-
1Loss-
DLC1-
-
-
-
1Loss-
DLEC1-
-
-
-
1Loss-
DLG1-
-
-
-
3Gain-
DLGAP2-
-
-
-
1Loss-
DLL4-
-
-
-
1Loss-
DMAC1-
-
-
-
1Loss-
DMRT1-
-
-
-
1Loss-
DMRT2-
-
-
-
1Loss-
DMRT3-
-
-
-
1Loss-
DMRTA1-
-
-
-
1Loss-
DMTN-
-
-
-
1Loss-
DMXL2-
-
-
-
1Loss-
DNAAF4-
-
-
-
1Loss-
DNAH1-
-
-
-
1Loss-
DNAH12-
-
-
-
1Loss-
DNAH14p.E1293Q
Missense
SNP
0.333
2--
DNAH5p.H2150Y
p.A1977S
p.D1074V
Missense
Missense
Missense
SNP
SNP
SNP
0.520
0.422
0.392
2--
DNAI1-
-
-
-
1Loss-
DNAJA1-
-
-
-
1Loss-
DNAJB1-
-
-
-
1Loss-
DNAJB11-
-
-
-
3Gain-
DNAJB5-
-
-
-
1Loss-
DNAJB8-
-
-
-
3Gain-
DNAJC13-
-
-
-
3Gain-
DNAJC15p.R59L
Missense
SNP
0.952
2--
DNAJC17-
-
-
-
1Loss-
DNAJC19-
-
-
-
3Gain-
DNAJC24-
-
-
-
1Loss-
DNAJC25-
-
-
-
1Loss-
DNAJC25-GNG10-
-
-
-
1Loss-
DNAJC27-
-
-
-
3Gain-
DNAJC5B-
-
-
-
3Gain-
DNAJC5G-
-
-
-
3Gain-
DNASE1L3-
-
-
-
1Loss-
DNASE2-
-
-
-
1Loss-
DNHD1-
-
-
-
1Loss-
DNLZ-
-
-
-
1Loss-
DNM1-
-
-
-
1Loss-
DNM2-
-
-
-
1Loss-
DNMT1-
-
-
-
1Loss-
DNMT3A-
-
-
-
3Gain-
DOCK3-
-
-
-
1Loss-
DOCK5-
-
-
-
1Loss-
DOCK6-
-
-
-
1Loss-
DOCK8-
-
-
-
1Loss-
DOHH-
-
-
-
1Loss-
DOK2-
-
-
-
1Loss-
DOK6p.T195K
Missense
SNP
0.889
1Loss-
DOLK-
-
-
-
1Loss-
DOLPP1-
-
-
-
1Loss-
DOT1L-
-
-
-
1Loss-
DPH3-
-
-
-
1Loss-
DPH6-
-
-
-
1Loss-
DPH7-
-
-
-
1Loss-
DPM2-
-
-
-
1Loss-
DPP10p.G13V
Missense
SNP
0.400
2--
DPP7-
-
-
-
1Loss-
DPP8-
-
-
-
1Loss-
DPP9-
-
-
-
1Loss-
DPPA2-
-
-
-
3Gain-
DPPA4-
-
-
-
3Gain-
DPY19L4-
-
-
-
3Gain-
DPY30-
-
-
-
3Gain-
DPYS-
-
-
-
3Gain-
DPYSL2-
-
-
-
1Loss-
DPYSL5-
-
-
-
3Gain-
DRC1-
-
-
-
3Gain-
DRD3-
-
-
-
3Gain-
DRD4-
-
-
-
1Loss-
DSC1-
-
-
-
10Amp-
DSC2-
-
-
-
10Amp-
DSC3-
-
-
-
10Amp-
DSCC1-
-
-
-
3Gain-
DSEL-
-
-
-
1Loss-
DSG1-
-
-
-
10Amp-
DSG2-
-
-
-
13Amp-
DSG3-
-
-
-
13Amp-
DSG4-
-
-
-
13Amp-
DTD2-
-
-
-
1Loss-
DTNA-
-
-
-
1Loss-
DTNB-
-
-
-
3Gain-
DTWD1-
-
-
-
1Loss-
DTX2p.D118N
Missense
SNP
0.069
2--
DTX3-
-
-
-
3Gain-
DTX3L-
-
-
-
3Gain-
DUOX1-
-
-
-
1Loss-
DUOX2-
-
-
-
1Loss-
DUOXA1-
-
-
-
1Loss-
DUOXA2-
-
-
-
1Loss-
DUS3L-
-
-
-
1Loss-
DUSP26-
-
-
-
1Loss-
DUSP4-
-
-
-
1Loss-
DUSP7-
-
-
-
1Loss-
DUSP8-
-
-
-
1Loss-
DUT-
-
-
-
1Loss-
DVL3-
-
-
-
3Gain-
DYM-
-
-
-
1Loss-
DYNAP-
-
-
-
1Loss-
DYNC1LI1-
-
-
-
1Loss-
DYNC2LI1-
-
-
-
3Gain-
DYSF-
-
-
-
3Gain-
DZANK1p.E159D
Missense
SNP
0.478
2--
DZIP1L-
-
-
-
3Gain-
DZIP3-
-
-
-
3Gain-
E2F5-
-
-
-
3Gain-
E2F6-
-
-
-
3Gain-
E2F8-
-
-
-
1Loss-
EAF1-
-
-
-
1Loss-
EAF2-
-
-
-
3Gain-
EAPP-
-
-
-
1Loss-
EBAG9-
-
-
-
3Gain-
EBF2-
-
-
-
1Loss-
EBI3-
-
-
-
1Loss-
EBLN2-
-
-
-
1Loss-
ECE2-
-
-
-
3Gain-
ECHS1-
-
-
-
1Loss-
ECM2-
-
-
-
1Loss-
ECPAS-
-
-
-
1Loss-
ECSIT-
-
-
-
1Loss-
ECT2-
-
-
-
3Gain-
EDC3-
-
-
-
1Loss-
EDDM3A-
-
-
-
1Loss-
EDDM3B-
-
-
-
1Loss-
EDEM1-
-
-
-
1Loss-
EDF1-
-
-
-
1Loss-
EEF1AKMT4-
-
-
-
3Gain-
EEF1AKMT4-ECE2-
-
-
-
3Gain-
EEF1D-
-
-
-
3Gain-
EEF2-
-
-
-
1Loss-
EEFSEC-
-
-
-
3Gain-
EFCAB1-
-
-
-
3Gain-
EFCAB12-
-
-
-
3Gain-
EFCC1-
-
-
-
3Gain-
EFEMP1-
-
-
-
3Gain-
EFHB-
-
-
-
1Loss-
EFNA2-
-
-
-
1Loss-
EFR3A-
-
-
-
3Gain-
EFR3B-
-
-
-
3Gain-
EFS-
-
-
-
1Loss-
EGFL7-
-
-
-
1Loss-
EGLN3-
-
-
-
1Loss-
EGR3-
-
-
-
1Loss-
EHBP1-
-
-
-
3Gain-
EHD3-
-
-
-
3Gain-
EHD4-
-
-
-
1Loss-
EHF-
-
-
-
1Loss-
EHHADH-
-
-
-
3Gain-
EHMT1-
-
-
-
1Loss-
EID1-
-
-
-
1Loss-
EIF1B-
-
-
-
1Loss-
EIF2A-
-
-
-
3Gain-
EIF2AK2-
-
-
-
3Gain-
EIF2AK4-
-
-
-
1Loss-
EIF2B4-
-
-
-
3Gain-
EIF2B5-
-
-
-
3Gain-
EIF2S3Lp.L442H
Missense
SNP
0.420
NDND-
EIF3E-
-
-
-
3Gain-
EIF3F-
-
-
-
1Loss-
EIF3G-
-
-
-
1Loss-
EIF3H-
-
-
-
3Gain-
EIF3J-
-
-
-
1Loss-
EIF3M-
-
-
-
1Loss-
EIF4A2-
-
-
-
3Gain-
EIF4E3-
-
-
-
1Loss-
EIF4EBP1-
-
-
-
1Loss-
EIF4G1-
-
-
-
3Gain-
EIF4G2-
-
-
-
1Loss-
EIF5A2-
-
-
-
3Gain-
EIPR1-
-
-
-
3Gain-
ELAC1-
-
-
-
1Loss-
ELANE-
-
-
-
1Loss-
ELAVL1-
-
-
-
1Loss-
ELAVL2-
-
-
-
1Loss-
ELAVL3-
-
-
-
1Loss-
ELF5-
-
-
-
1Loss-
ELL-
-
-
-
1Loss-
ELL3-
-
-
-
1Loss-
ELNp.G479V
Missense
SNP
0.480
2--
ELOA2-
-
-
-
1Loss-
ELOA3C-
-
-
-
1Loss-
ELOA3D-
-
-
-
1Loss-
ELOC-
-
-
-
3Gain-
ELOF1-
-
-
-
1Loss-
ELP1-
-
-
-
1Loss-
ELP2-
-
-
-
1Loss-
ELP3-
-
-
-
1Loss-
ELP4-
-
-
-
1Loss-
ELP6-
-
-
-
1Loss-
EMC2-
-
-
-
3Gain-
EMC3-
-
-
-
1Loss-
EMC4-
-
-
-
1Loss-
EMC7-
-
-
-
1Loss-
EMC9-
-
-
-
1Loss-
EMILIN1-
-
-
-
3Gain-
EML4-
-
-
-
3Gain-
EML6-
-
-
-
3Gain-
ENDOG-
-
-
-
1Loss-
ENG-
-
-
-
1Loss-
ENHO-
-
-
-
1Loss-
ENPP2-
-
-
-
3Gain-
ENTPD2-
-
-
-
1Loss-
ENTPD3-
-
-
-
1Loss-
ENTPD4-
-
-
-
1Loss-
ENTPD8-
-
-
-
1Loss-
ENTR1-
-
-
-
1Loss-
ENY2-
-
-
-
3Gain-
EOGT-
-
-
-
1Loss-
EOMES-
-
-
-
1Loss-
EP300p.K1001E
Missense
SNP
0.542
2--
EPAS1-
-
-
-
3Gain-
EPB41L4B-
-
-
-
1Loss-
EPB42-
-
-
-
1Loss-
EPCAM-
-
-
-
3Gain-
EPG5-
-
-
-
1Loss-
EPHA3p.V743I
Missense
SNP
0.934
1Loss-
EPHA6-
-
-
-
3Gain-
EPHB1-
-
-
-
3Gain-
EPHB3-
-
-
-
3Gain-
EPHX2-
-
-
-
1Loss-
EPHX3-
-
-
-
1Loss-
EPM2AIP1-
-
-
-
1Loss-
EPOR-
-
-
-
1Loss-
EPPK1-
-
-
-
3Gain-
EPS15L1-
-
-
-
1Loss-
EPS8L2-
-
-
-
1Loss-
EQTN-
-
-
-
1Loss-
ERC2-
-
-
-
1Loss-
ERCC6L2-
-
-
-
1Loss-
ERI1-
-
-
-
1Loss-
ERICH1-
-
-
-
1Loss-
ERICH5-
-
-
-
3Gain-
ERICH6-
-
-
-
3Gain-
ERLEC1-
-
-
-
3Gain-
ERLIN2-
-
-
-
1Loss-
ERMP1-
-
-
-
1Loss-
ERP29-
-
-
-
1Loss-
ERP44-
-
-
-
1Loss-
ERV3-1p.Y459D
Missense
SNP
0.430
2--
ESCO2-
-
-
-
1Loss-
ESRP1-
-
-
-
3Gain-
ESYT3-
-
-
-
3Gain-
ETAA1-
-
-
-
3Gain-
ETFAp.A153D
Missense
SNP
0.443
2--
ETV5-
-
-
-
3Gain-
EVI5L-
-
-
-
1Loss-
EXD1-
-
-
-
1Loss-
EXD3-
-
-
-
1Loss-
EXOC6B-
-
-
-
3Gain-
EXOG-
-
-
-
1Loss-
EXOSC2-
-
-
-
1Loss-
EXOSC3-
-
-
-
1Loss-
EXOSC4-
-
-
-
3Gain-
EXOSC7-
-
-
-
1Loss-
EXT1-
-
-
-
3Gain-
EXT2-
-
-
-
1Loss-
EXTL3-
-
-
-
1Loss-
EYA1-
-
-
-
3Gain-
EYSp.P158A
Missense
SNP
0.477
2--
F2-
-
-
-
1Loss-
F2RL3-
-
-
-
1Loss-
FABP12-
-
-
-
3Gain-
FABP4-
-
-
-
3Gain-
FABP5-
-
-
-
3Gain-
FABP9-
-
-
-
3Gain-
FAIM-
-
-
-
3Gain-
FAM102A-
-
-
-
1Loss-
FAM107A-
-
-
-
1Loss-
FAM110B-
-
-
-
3Gain-
FAM110C-
-
-
-
3Gain-
FAM120A-
-
-
-
1Loss-
FAM120AOS-
-
-
-
1Loss-
FAM122A-
-
-
-
1Loss-
FAM129B-
-
-
-
1Loss-
FAM129C-
-
-
-
1Loss-
FAM131A-
-
-
-
3Gain-
FAM135Bp.R184G
Missense
SNP
0.379
3Gain-
FAM136A-
-
-
-
3Gain-
FAM160A2-
-
-
-
1Loss-
FAM160B2-
-
-
-
1Loss-
FAM161A-
-
-
-
3Gain-
FAM162A-
-
-
-
3Gain-
FAM163B-
-
-
-
1Loss-
FAM166A-
-
-
-
1Loss-
FAM166B-
-
-
-
1Loss-
FAM167A-
-
-
-
1Loss-
FAM180B-
-
-
-
1Loss-
FAM189A1-
-
-
-
1Loss-
FAM189A2-
-
-
-
1Loss-
FAM198A-
-
-
-
1Loss-
FAM19A1-
-
-
-
1Loss-
FAM19A4-
-
-
-
1Loss-
FAM205A-
-
-
-
1Loss-
FAM205C-
-
-
-
1Loss-
FAM206A-
-
-
-
1Loss-
FAM208A-
-
-
-
1Loss-
FAM214A-
-
-
-
1Loss-
FAM214B-
-
-
-
1Loss-
FAM219A-
-
-
-
1Loss-
FAM219B-
-
-
-
1Loss-
FAM221B-
-
-
-
1Loss-
FAM227B-
-
-
-
1Loss-
FAM228A-
-
-
-
3Gain-
FAM228B-
-
-
-
3Gain-
FAM240A-
-
-
-
1Loss-
FAM243B-
-
-
-
1Loss-
FAM32A-
-
-
-
1Loss-
FAM3D-
-
-
-
1Loss-
FAM43Ap.L91F
Missense
SNP
0.654
3Gain-
FAM49A-
-
-
-
3Gain-
FAM49B-
-
-
-
3Gain-
FAM69B-
-
-
-
1Loss-
FAM69C-
-
-
-
1Loss-
FAM78A-
-
-
-
1Loss-
FAM81A-
-
-
-
1Loss-
FAM83A-
-
-
-
3Gain-
FAM83H-
-
-
-
3Gain-
FAM84A-
-
-
-
3Gain-
FAM84B-
-
-
-
3Gain-
FAM86B1-
-
-
-
1Loss-
FAM91A1-
-
-
-
3Gain-
FAM92A-
-
-
-
3Gain-
FAM95C-
-
-
-
1Loss-
FAM98A-
-
-
-
3Gain-
FAM98B-
-
-
-
1Loss-
FAN1-
-
-
-
1Loss-
FANCAp.H544R
Missense
SNP
0.500
2--
FANCC-
-
-
-
1Loss-
FANCD2-
-
-
-
1Loss-
FANCD2OS-
-
-
-
1Loss-
FANCF-
-
-
-
1Loss-
FANCG-
-
-
-
1Loss-
FANCL-
-
-
-
3Gain-
FANK1p.G133D
Missense
SNP
0.459
2--
FAPp.S289N
Missense
SNP
0.464
2--
FAR1-
-
-
-
1Loss-
FARSA-
-
-
-
1Loss-
FAT1p.E2987*
Nonsense
SNP
0.995
2--
FAT3p.D2800H
Missense
SNP
0.476
2--
FBLN2-
-
-
-
1Loss-
FBN1-
-
-
-
1Loss-
FBN3-
-
-
-
1Loss-
FBP1-
-
-
-
1Loss-
FBP2-
-
-
-
1Loss-
FBXL12-
-
-
-
1Loss-
FBXL2-
-
-
-
1Loss-
FBXL22-
-
-
-
1Loss-
FBXL6-
-
-
-
3Gain-
FBXO10-
-
-
-
1Loss-
FBXO11-
-
-
-
3Gain-
FBXO15-
-
-
-
1Loss-
FBXO16-
-
-
-
1Loss-
FBXO25-
-
-
-
1Loss-
FBXO3-
-
-
-
1Loss-
FBXO30p.N74K
Missense
SNP
0.471
2--
FBXO32-
-
-
-
3Gain-
FBXO40-
-
-
-
3Gain-
FBXO43-
-
-
-
3Gain-
FBXO45-
-
-
-
3Gain-
FBXO48-
-
-
-
3Gain-
FBXW12-
-
-
-
1Loss-
FBXW2-
-
-
-
1Loss-
FBXW5-
-
-
-
1Loss-
FBXW9-
-
-
-
1Loss-
FCER2-
-
-
-
1Loss-
FCHO1-
-
-
-
1Loss-
FCN1-
-
-
-
1Loss-
FCN2-
-
-
-
1Loss-
FCRL1p.L317F
Missense
SNP
0.354
2--
FDFT1-
-
-
-
1Loss-
FDX2-
-
-
-
1Loss-
FECH-
-
-
-
1Loss-
FEM1A-
-
-
-
1Loss-
FEM1B-
-
-
-
1Loss-
FER1L6-
-
-
-
3Gain-
FETUB-
-
-
-
3Gain-
FEZ2-
-
-
-
3Gain-
FEZF2-
-
-
-
1Loss-
FGD3-
-
-
-
1Loss-
FGD5p.P1167T
Missense
SNP
0.956
1Loss-
FGF12-
-
-
-
3Gain-
FGF17-
-
-
-
1Loss-
FGF20-
-
-
-
1Loss-
FGF22-
-
-
-
1Loss-
FGF7-
-
-
-
1Loss-
FGFR1-
-
-
-
1Loss-
FGL1-
-
-
-
1Loss-
FHIT-
-
-
-
1Loss-
FHOD3-
-
-
-
1Loss-
FIBCD1-
-
-
-
1Loss-
FIBIN-
-
-
-
1Loss-
FIGLA-
-
-
-
3Gain-
FILIP1L-
-
-
-
3Gain-
FITM1-
-
-
-
1Loss-
FJX1-
-
-
-
1Loss-
FKBP15-
-
-
-
1Loss-
FKBP1B-
-
-
-
3Gain-
FKBP8-
-
-
-
1Loss-
FKTN-
-
-
-
1Loss-
FLGp.Q2574H
Missense
SNP
0.427
3Gain-
FLG2-
-
-
-
3Gain-
FLNB-
-
-
-
1Loss-
FMN1-
-
-
-
1Loss-
FNBP1-
-
-
-
1Loss-
FNBP4-
-
-
-
1Loss-
FNDC3B-
-
-
-
3Gain-
FNDC4-
-
-
-
3Gain-
FNTA-
-
-
-
1Loss-
FOCAD-
-
-
-
1Loss-
FOLH1-
-
-
-
1Loss-
FOSL2-
-
-
-
3Gain-
FOXB1-
-
-
-
1Loss-
FOXB2-
-
-
-
1Loss-
FOXE1-
-
-
-
1Loss-
FOXG1-
-
-
-
1Loss-
FOXH1-
-
-
-
3Gain-
FOXJ2p.T53S
Missense
SNP
0.439
2--
FOXL2-
-
-
-
3Gain-
FOXL2NB-
-
-
-
3Gain-
FOXN2-
-
-
-
3Gain-
FOXP1-
-
-
-
1Loss-
FP565260.1-
-
-
-
1Loss-
FP565260.2-
-
-
-
1Loss-
FP565260.3-
-
-
-
1Loss-
FP565260.4-
-
-
-
1Loss-
FP565260.6-
-
-
-
1Loss-
FPGS-
-
-
-
1Loss-
FREM1p.A2037S
p.V439L
Missense
Missense
SNP
SNP
0.921
0.056
1Loss-
FRG2B-
-
-
-
1Loss-
FRG2C-
-
-
-
1Loss-
FRMD3-
-
-
-
1Loss-
FRMD4B-
-
-
-
1Loss-
FRMD5-
-
-
-
1Loss-
FRMPD1-
-
-
-
1Loss-
FRRS1L-
-
-
-
1Loss-
FSBP-
-
-
-
3Gain-
FSCN1p.E162G
Missense
SNP
0.556
2--
FSD1-
-
-
-
1Loss-
FSD1L-
-
-
-
1Loss-
FSHB-
-
-
-
1Loss-
FSHR-
-
-
-
3Gain-
FSIP1-
-
-
-
1Loss-
FSTL1-
-
-
-
3Gain-
FSTL3-
-
-
-
1Loss-
FUBP3-
-
-
-
1Loss-
FUOM-
-
-
-
1Loss-
FUT10-
-
-
-
1Loss-
FUT3-
-
-
-
1Loss-
FUT5-
-
-
-
1Loss-
FUT6-
-
-
-
1Loss-
FUT7-
-
-
-
1Loss-
FXN-
-
-
-
1Loss-
FXR1-
-
-
-
3Gain-
FYCO1-
-
-
-
1Loss-
FYTTD1-
-
-
-
3Gain-
FZD3-
-
-
-
1Loss-
FZD6-
-
-
-
3Gain-
FZR1-
-
-
-
1Loss-
G2E3-
-
-
-
1Loss-
GAB4p.G163*
Nonsense
SNP
0.065
2--
GABBR2-
-
-
-
1Loss-
GABPB1-
-
-
-
1Loss-
GABRA5-
-
-
-
1Loss-
GABRB3-
-
-
-
1Loss-
GABRG3-
-
-
-
1Loss-
GABRR3-
-
-
-
3Gain-
GADD45B-
-
-
-
1Loss-
GADD45G-
-
-
-
1Loss-
GADD45GIP1-
-
-
-
1Loss-
GADL1-
-
-
-
1Loss-
GAKp.A363V
Missense
SNP
0.060
2--
GALK2-
-
-
-
1Loss-
GALM-
-
-
-
3Gain-
GALNT1-
-
-
-
1Loss-
GALNT12-
-
-
-
1Loss-
GALNT14-
-
-
-
3Gain-
GALNT15-
-
-
-
1Loss-
GALNT18-
-
-
-
1Loss-
GALR1-
-
-
-
1Loss-
GALT-
-
-
-
1Loss-
GAMT-
-
-
-
1Loss-
GANC-
-
-
-
1Loss-
GAP43-
-
-
-
3Gain-
GAPVD1-
-
-
-
1Loss-
GAREM1-
-
-
-
13Amp-
GAREM2-
-
-
-
3Gain-
GARNL3-
-
-
-
1Loss-
GAS1-
-
-
-
1Loss-
GAS2-
-
-
-
1Loss-
GATA2p.D184H
Missense
SNP
0.299
3Gain-
GATA4-
-
-
-
1Loss-
GATAD2A-
-
-
-
1Loss-
GATD1-
-
-
-
1Loss-
GATD3B-
-
-
-
1Loss-
GATM-
-
-
-
1Loss-
GBA2-
-
-
-
1Loss-
GBE1-
-
-
-
1Loss-
GBGT1-
-
-
-
1Loss-
GCDH-
-
-
-
1Loss-
GCHFR-
-
-
-
1Loss-
GCKR-
-
-
-
3Gain-
GCNT1-
-
-
-
1Loss-
GCNT3-
-
-
-
1Loss-
GCOM1-
-
-
-
1Loss-
GCSAM-
-
-
-
3Gain-
GDA-
-
-
-
1Loss-
GDAP1-
-
-
-
3Gain-
GDF1-
-
-
-
1Loss-
GDF15-
-
-
-
1Loss-
GDF6-
-
-
-
3Gain-
GDF7-
-
-
-
3Gain-
GEM-
-
-
-
3Gain-
GEMIN6-
-
-
-
3Gain-
GEN1-
-
-
-
3Gain-
GFI1B-
-
-
-
1Loss-
GFM1-
-
-
-
3Gain-
GFPT1-
-
-
-
3Gain-
GFRA2-
-
-
-
1Loss-
GGH-
-
-
-
3Gain-
GHRHp.E92Q
Missense
SNP
0.497
2--
GHRL-
-
-
-
1Loss-
GHSR-
-
-
-
3Gain-
GIMAP5p.L116M
Missense
SNP
0.565
2--
GINS4-
-
-
-
1Loss-
GIPC1-
-
-
-
1Loss-
GIPC3-
-
-
-
1Loss-
GJD2-
-
-
-
1Loss-
GK5-
-
-
-
3Gain-
GKAP1-
-
-
-
1Loss-
GKN1-
-
-
-
3Gain-
GKN2-
-
-
-
3Gain-
GLB1-
-
-
-
1Loss-
GLCE-
-
-
-
1Loss-
GLDC-
-
-
-
1Loss-
GLDN-
-
-
-
1Loss-
GLE1-
-
-
-
1Loss-
GLI1-
-
-
-
3Gain-
GLI3p.Q926L
Missense
SNP
0.346
2--
GLI4-
-
-
-
3Gain-
GLIPR2-
-
-
-
1Loss-
GLIS3-
-
-
-
1Loss-
GLOD4p.K162N
Missense
SNP
0.474
2--
GLT6D1-
-
-
-
1Loss-
GLT8D1-
-
-
-
1Loss-
GLYCTK-
-
-
-
1Loss-
GMCL1-
-
-
-
3Gain-
GMIP-
-
-
-
1Loss-
GML-
-
-
-
3Gain-
GMNC-
-
-
-
3Gain-
GMPPB-
-
-
-
1Loss-
GMPR2-
-
-
-
1Loss-
GMPS-
-
-
-
3Gain-
GNA11-
-
-
-
1Loss-
GNA14-
-
-
-
1Loss-
GNA15p.M62T
Missense
SNP
0.946
1Loss-
GNAI2-
-
-
-
1Loss-
GNAQ-
-
-
-
1Loss-
GNAT1-
-
-
-
1Loss-
GNB4-
-
-
-
3Gain-
GNB5-
-
-
-
1Loss-
GNE-
-
-
-
1Loss-
GNG10-
-
-
-
1Loss-
GNG14-
-
-
-
1Loss-
GNG7-
-
-
-
1Loss-
GNL3-
-
-
-
1Loss-
GNRH1-
-
-
-
1Loss-
GOLGA1-
-
-
-
1Loss-
GOLGA2-
-
-
-
1Loss-
GOLGA4-
-
-
-
1Loss-
GOLGA6A-
-
-
-
1Loss-
GOLGA6B-
-
-
-
1Loss-
GOLGA6C-
-
-
-
1Loss-
GOLGA6D-
-
-
-
1Loss-
GOLGA6L1-
-
-
-
1Loss-
GOLGA6L2-
-
-
-
1Loss-
GOLGA6L7-
-
-
-
1Loss-
GOLGA7-
-
-
-
1Loss-
GOLGA8A-
-
-
-
1Loss-
GOLGA8B-
-
-
-
1Loss-
GOLGA8F-
-
-
-
1Loss-
GOLGA8G-
-
-
-
1Loss-
GOLGA8H-
-
-
-
1Loss-
GOLGA8J-
-
-
-
1Loss-
GOLGA8M-
-
-
-
1Loss-
GOLGA8N-
-
-
-
1Loss-
GOLGA8O-
-
-
-
1Loss-
GOLGA8R-
-
-
-
1Loss-
GOLGA8S-
-
-
-
1Loss-
GOLGA8T-
-
-
-
1Loss-
GOLGB1-
-
-
-
3Gain-
GOLIM4-
-
-
-
3Gain-
GOLM1-
-
-
-
1Loss-
GORASP1-
-
-
-
1Loss-
GOT1L1-
-
-
-
1Loss-
GP5-
-
-
-
3Gain-
GP9-
-
-
-
3Gain-
GPAA1-
-
-
-
3Gain-
GPAT4-
-
-
-
1Loss-
GPATCH11-
-
-
-
3Gain-
GPD1L-
-
-
-
1Loss-
GPD2p.M659I
Missense
SNP
0.607
2--
GPIHBP1-
-
-
-
3Gain-
GPN1-
-
-
-
3Gain-
GPR107-
-
-
-
1Loss-
GPR108-
-
-
-
1Loss-
GPR149-
-
-
-
3Gain-
GPR15-
-
-
-
3Gain-
GPR156-
-
-
-
3Gain-
GPR160-
-
-
-
3Gain-
GPR171-
-
-
-
3Gain-
GPR176-
-
-
-
1Loss-
GPR20-
-
-
-
3Gain-
GPR21-
-
-
-
1Loss-
GPR27-
-
-
-
1Loss-
GPR33-
-
-
-
1Loss-
GPR52p.M340V
Missense
SNP
0.054
2--
GPR62-
-
-
-
1Loss-
GPR75-
-
-
-
3Gain-
GPR75-ASB3-
-
-
-
3Gain-
GPR87-
-
-
-
3Gain-
GPSM1-
-
-
-
1Loss-
GPT-
-
-
-
3Gain-
GPX1-
-
-
-
1Loss-
GPX4-
-
-
-
1Loss-
GRAMD1C-
-
-
-
3Gain-
GRAMD2A-
-
-
-
1Loss-
GREB1p.T1465S
Missense
SNP
0.269
3Gain-
GREM1-
-
-
-
1Loss-
GRHL1-
-
-
-
3Gain-
GRHL2-
-
-
-
3Gain-
GRHPR-
-
-
-
1Loss-
GRIN1-
-
-
-
1Loss-
GRIN3A-
-
-
-
1Loss-
GRIN3B-
-
-
-
1Loss-
GRINA-
-
-
-
3Gain-
GRIP2-
-
-
-
1Loss-
GRK7-
-
-
-
3Gain-
GRM2-
-
-
-
1Loss-
GRM7-
-
-
-
1Loss-
GRP-
-
-
-
1Loss-
GSDMC-
-
-
-
3Gain-
GSDMD-
-
-
-
3Gain-
GSK3B-
-
-
-
3Gain-
GSN-
-
-
-
1Loss-
GSR-
-
-
-
1Loss-
GTF2A1L-
-
-
-
3Gain-
GTF2A2-
-
-
-
1Loss-
GTF2E1-
-
-
-
3Gain-
GTF2E2-
-
-
-
1Loss-
GTF2F1-
-
-
-
1Loss-
GTF2H1-
-
-
-
1Loss-
GTF3C2-
-
-
-
3Gain-
GTF3C4-
-
-
-
1Loss-
GTF3C5-
-
-
-
1Loss-
GTPBP3-
-
-
-
1Loss-
GTPBP8-
-
-
-
3Gain-
GUCA1C-
-
-
-
3Gain-
GXYLT2-
-
-
-
1Loss-
GYG1-
-
-
-
3Gain-
GZMB-
-
-
-
1Loss-
GZMH-
-
-
-
1Loss-
GZMM-
-
-
-
1Loss-
H1FOO-
-
-
-
3Gain-
H1FX-
-
-
-
3Gain-
H2BFS-
-
-
-
1Loss-
HAAO-
-
-
-
3Gain-
HABP4-
-
-
-
1Loss-
HACD2-
-
-
-
3Gain-
HACD3-
-
-
-
1Loss-
HACD4-
-
-
-
1Loss-
HACL1-
-
-
-
1Loss-
HADHA-
-
-
-
3Gain-
HADHB-
-
-
-
3Gain-
HAPLN4-
-
-
-
1Loss-
HARBI1-
-
-
-
1Loss-
HAS2-
-
-
-
3Gain-
HAT1p.E34Q
Missense
SNP
0.488
2--
HAUS1-
-
-
-
1Loss-
HAUS2-
-
-
-
1Loss-
HAUS4-
-
-
-
1Loss-
HAUS6-
-
-
-
1Loss-
HAUS8-
-
-
-
1Loss-
HAVCR1p.S84L
Missense
SNP
0.490
2--
HBB-
-
-
-
1Loss-
HBD-
-
-
-
1Loss-
HBE1-
-
-
-
1Loss-
HBG1-
-
-
-
1Loss-
HBG2-
-
-
-
1Loss-
HCFC1p.Q1361L
Missense
SNP
0.818
NDND-
HCLS1-
-
-
-
3Gain-
HCN1p.Q736K
Missense
SNP
0.583
2--
HCN2-
-
-
-
1Loss-
HCN4-
-
-
-
1Loss-
HCRTR2p.Q423K
Missense
SNP
0.431
2--
HDAC11-
-
-
-
1Loss-
HDC-
-
-
-
1Loss-
HDGFL2-
-
-
-
1Loss-
HDHD2-
-
-
-
1Loss-
HDHD3-
-
-
-
1Loss-
HEATR5A-
-
-
-
1Loss-
HEATR5B-
-
-
-
3Gain-
HECTD1-
-
-
-
1Loss-
HECTD4-
-
-
-
1Loss-
HECW2p.M166I
Missense
SNP
0.469
2--
HEG1-
-
-
-
3Gain-
HELZ2p.A386P
Missense
SNP
0.471
2--
HEMGN-
-
-
-
1Loss-
HEMK1-
-
-
-
1Loss-
HERC1-
-
-
-
1Loss-
HERC2-
-
-
-
1Loss-
HERC5p.E283D
Missense
SNP
0.967
2--
HES1-
-
-
-
3Gain-
HESX1-
-
-
-
1Loss-
HEXA-
-
-
-
1Loss-
HEY1-
-
-
-
3Gain-
HGD-
-
-
-
3Gain-
HGH1-
-
-
-
3Gain-
HGSNAT-
-
-
-
1Loss-
HHATL-
-
-
-
1Loss-
HHIPL2p.R709S
Missense
SNP
0.451
2--
HHLA1-
-
-
-
3Gain-
HHLA2-
-
-
-
3Gain-
HIGD2B-
-
-
-
1Loss-
HINT2-
-
-
-
1Loss-
HIPK3-
-
-
-
1Loss-
HIPK4p.K138T
Missense
SNP
0.968
2--
HLTFp.E892Q
Missense
SNP
0.258
3Gain-
HMBOX1-
-
-
-
1Loss-
HMCES-
-
-
-
3Gain-
HMCN2-
-
-
-
1Loss-
HMG20B-
-
-
-
1Loss-
HMSD-
-
-
-
1Loss-
HNF4G-
-
-
-
3Gain-
HNRNPC-
-
-
-
1Loss-
HNRNPK-
-
-
-
1Loss-
HNRNPLL-
-
-
-
3Gain-
HNRNPM-
-
-
-
1Loss-
HOMER3-
-
-
-
1Loss-
HOMEZ-
-
-
-
1Loss-
HOOK2-
-
-
-
1Loss-
HOOK3-
-
-
-
1Loss-
HOXC10-
-
-
-
1Loss-
HOXC5-
-
-
-
1Loss-
HOXC6-
-
-
-
1Loss-
HOXC8-
-
-
-
1Loss-
HOXC9-
-
-
-
1Loss-
HPCAL1-
-
-
-
3Gain-
HPS3-
-
-
-
3Gain-
HPS5-
-
-
-
1Loss-
HPX-
-
-
-
1Loss-
HR-
-
-
-
1Loss-
HRAS-
-
-
-
1Loss-
HRASLS-
-
-
-
3Gain-
HRCT1-
-
-
-
1Loss-
HRG-
-
-
-
3Gain-
HRH1-
-
-
-
1Loss-
HRNR-
-
-
-
3Gain-
HS1BP3-
-
-
-
3Gain-
HSBP1L1-
-
-
-
1Loss-
HSD11B1L-
-
-
-
1Loss-
HSD17B12-
-
-
-
1Loss-
HSD17B3-
-
-
-
1Loss-
HSDL2-
-
-
-
1Loss-
HSF1-
-
-
-
3Gain-
HSH2D-
-
-
-
1Loss-
HSPA5-
-
-
-
1Loss-
HSPBAP1-
-
-
-
3Gain-
HTATIP2-
-
-
-
1Loss-
HTD2-
-
-
-
1Loss-
HTN1p.*58Sext*3
Nonstop
SNP
0.964
2--
HTR1F-
-
-
-
1Loss-
HTR2Ap.G308D
Missense
SNP
0.925
2--
HTR3C-
-
-
-
3Gain-
HTR3D-
-
-
-
3Gain-
HTR3E-
-
-
-
3Gain-
HTRA4-
-
-
-
1Loss-
HUWE1p.E3020*
Frame_Shift_Ins
INS
0.453
NDND-
HYAL1-
-
-
-
1Loss-
HYAL2-
-
-
-
1Loss-
HYAL3-
-
-
-
1Loss-
HYDINp.P5091T
p.G901V
Missense
Missense
SNP
SNP
0.529
0.566
2--
HYPK-
-
-
-
1Loss-
IAH1-
-
-
-
3Gain-
IARS-
-
-
-
1Loss-
ICAM1-
-
-
-
1Loss-
ICAM3-
-
-
-
1Loss-
ICAM4-
-
-
-
1Loss-
ICAM5-
-
-
-
1Loss-
ICE2-
-
-
-
1Loss-
ID2-
-
-
-
3Gain-
IDNK-
-
-
-
1Loss-
IDO1-
-
-
-
1Loss-
IDO2-
-
-
-
1Loss-
IER2-
-
-
-
1Loss-
IER3IP1-
-
-
-
1Loss-
IER5L-
-
-
-
1Loss-
IFI16p.G156E
Missense
SNP
0.471
2--
IFI30-
-
-
-
1Loss-
IFITM1-
-
-
-
1Loss-
IFITM10-
-
-
-
1Loss-
IFITM2-
-
-
-
1Loss-
IFITM3-
-
-
-
1Loss-
IFITM5-
-
-
-
1Loss-
IFNA1p.W164R
Missense
SNP
0.935
1Loss-
IFNA10-
-
-
-
1Loss-
IFNA13-
-
-
-
1Loss-
IFNA14-
-
-
-
1Loss-
IFNA16-
-
-
-
1Loss-
IFNA17-
-
-
-
1Loss-
IFNA2-
-
-
-
1Loss-
IFNA21-
-
-
-
1Loss-
IFNA4-
-
-
-
1Loss-
IFNA5-
-
-
-
1Loss-
IFNA6-
-
-
-
1Loss-
IFNA7-
-
-
-
1Loss-
IFNA8-
-
-
-
1Loss-
IFNB1-
-
-
-
1Loss-
IFNE-
-
-
-
1Loss-
IFNK-
-
-
-
1Loss-
IFNW1-
-
-
-
1Loss-
IFRD2-
-
-
-
1Loss-
IFT122-
-
-
-
3Gain-
IFT172-
-
-
-
3Gain-
IFT57-
-
-
-
3Gain-
IFT74-
-
-
-
1Loss-
IFT80-
-
-
-
3Gain-
IGDCC3-
-
-
-
1Loss-
IGDCC4-
-
-
-
1Loss-
IGF2-
-
-
-
1Loss-
IGF2BP2-
-
-
-
3Gain-
IGFBPL1-
-
-
-
1Loss-
IGHMp.R120S
Missense
SNP
0.381
NDND-
IGHV3OR15-7p.P33T
Missense
SNP
0.897
NDND-
IGKV1-16p.A47Rfs*9
Frame_Shift_Del
DEL
0.448
NDND-
IGKV1D-43p.L33P
Missense
SNP
0.927
NDND-
IGSF10-
-
-
-
3Gain-
IGSF11-
-
-
-
3Gain-
IGSF22-
-
-
-
1Loss-
IKBKB-
-
-
-
1Loss-
IKZF5p.R316L
Missense
SNP
0.503
2--
IL11RA-
-
-
-
1Loss-
IL12A-
-
-
-
3Gain-
IL12RB1-
-
-
-
1Loss-
IL17RB-
-
-
-
1Loss-
IL17RC-
-
-
-
1Loss-
IL17RD-
-
-
-
1Loss-
IL17RE-
-
-
-
1Loss-
IL1RAP-
-
-
-
3Gain-
IL20RB-
-
-
-
3Gain-
IL25-
-
-
-
1Loss-
IL27RA-
-
-
-
1Loss-
IL33-
-
-
-
1Loss-
IL5RA-
-
-
-
1Loss-
IL6STp.R447M
Missense
SNP
0.503
2--
IL7-
-
-
-
3Gain-
ILDR1-
-
-
-
3Gain-
ILF3-
-
-
-
1Loss-
ILK-
-
-
-
1Loss-
ILVBL-
-
-
-
1Loss-
IMMP1L-
-
-
-
1Loss-
IMP3-
-
-
-
1Loss-
IMPA1-
-
-
-
3Gain-
IMPAD1-
-
-
-
3Gain-
IMPDH2-
-
-
-
1Loss-
IMPG2-
-
-
-
3Gain-
INHBC-
-
-
-
3Gain-
INHBE-
-
-
-
3Gain-
INIP-
-
-
-
1Loss-
INKA1-
-
-
-
1Loss-
INO80-
-
-
-
1Loss-
INO80C-
-
-
-
1Loss-
INPP5E-
-
-
-
1Loss-
INS-
-
-
-
1Loss-
INS-IGF2-
-
-
-
1Loss-
INSC-
-
-
-
1Loss-
INSL3-
-
-
-
1Loss-
INSL4-
-
-
-
1Loss-
INSL6-
-
-
-
1Loss-
INSR-
-
-
-
1Loss-
INSYN1-
-
-
-
1Loss-
INTS10-
-
-
-
1Loss-
INTS14-
-
-
-
1Loss-
INTS8-
-
-
-
3Gain-
INTS9-
-
-
-
1Loss-
INVS-
-
-
-
1Loss-
IP6K1-
-
-
-
1Loss-
IP6K2-
-
-
-
1Loss-
IPO4-
-
-
-
1Loss-
IPO7-
-
-
-
1Loss-
IPPK-
-
-
-
1Loss-
IQANK1-
-
-
-
3Gain-
IQCA1p.S394*
Nonsense
SNP
0.559
2--
IQCB1-
-
-
-
3Gain-
IQCF1-
-
-
-
1Loss-
IQCF2-
-
-
-
1Loss-
IQCF3-
-
-
-
1Loss-
IQCF5-
-
-
-
1Loss-
IQCF6-
-
-
-
1Loss-
IQCG-
-
-
-
3Gain-
IQCH-
-
-
-
1Loss-
IQCJ-
-
-
-
3Gain-
IQCJ-SCHIP1-
-
-
-
3Gain-
IQCN-
-
-
-
1Loss-
IQSEC1-
-
-
-
1Loss-
IRAK2-
-
-
-
1Loss-
IRF7-
-
-
-
1Loss-
IRF9-
-
-
-
1Loss-
IRX4p.D320E
Missense
SNP
0.455
2--
ISCA1-
-
-
-
1Loss-
ISLR-
-
-
-
1Loss-
ISLR2-
-
-
-
1Loss-
ISY1-
-
-
-
3Gain-
ISY1-RAB43-
-
-
-
3Gain-
ISYNA1-
-
-
-
1Loss-
ITGA11-
-
-
-
1Loss-
ITGA9-
-
-
-
1Loss-
ITGB1BP1-
-
-
-
3Gain-
ITGB5-
-
-
-
3Gain-
ITIH1-
-
-
-
1Loss-
ITIH3-
-
-
-
1Loss-
ITIH4-
-
-
-
1Loss-
ITIH5p.P703S
Missense
SNP
0.487
2--
ITPKA-
-
-
-
1Loss-
ITPR1-
-
-
-
1Loss-
ITPR2p.Q2677K
Missense
SNP
0.494
2--
ITSN1p.M913I
Missense
SNP
0.486
2--
ITSN2-
-
-
-
3Gain-
IVD-
-
-
-
1Loss-
IZUMO3-
-
-
-
1Loss-
IZUMO4-
-
-
-
1Loss-
JAGN1-
-
-
-
1Loss-
JAK2-
-
-
-
1Loss-
JAK3-
-
-
-
1Loss-
JAMLp.A393T
Missense
SNP
0.528
2--
JMJD7-
-
-
-
1Loss-
JMJD7-PLA2G4B-
-
-
-
1Loss-
JPH1-
-
-
-
3Gain-
JPH4-
-
-
-
1Loss-
JRK-
-
-
-
3Gain-
JSRP1-
-
-
-
1Loss-
JUNB-
-
-
-
1Loss-
JUND-
-
-
-
1Loss-
KALRN-
-
-
-
3Gain-
KANK1-
-
-
-
1Loss-
KANK2-
-
-
-
1Loss-
KANK3-
-
-
-
1Loss-
KAT2B-
-
-
-
1Loss-
KAT6A-
-
-
-
1Loss-
KATNAL2-
-
-
-
1Loss-
KATNB1p.L333Sfs*18
Frame_Shift_Del
DEL
0.468
2--
KATNBL1-
-
-
-
1Loss-
KBTBD11-
-
-
-
1Loss-
KBTBD11-OT1-
-
-
-
1Loss-
KBTBD12-
-
-
-
3Gain-
KBTBD13-
-
-
-
1Loss-
KBTBD4-
-
-
-
1Loss-
KBTBD8-
-
-
-
1Loss-
KCNA4-
-
-
-
1Loss-
KCNAB1-
-
-
-
3Gain-
KCNB2p.G345V
Missense
SNP
0.257
3Gain-
KCNC1-
-
-
-
1Loss-
KCNE1B-
-
-
-
1Loss-
KCNF1-
-
-
-
3Gain-
KCNG2-
-
-
-
1Loss-
KCNG3-
-
-
-
3Gain-
KCNH8-
-
-
-
1Loss-
KCNJ11-
-
-
-
1Loss-
KCNJ8p.I17L
Missense
SNP
0.561
2--
KCNK12-
-
-
-
3Gain-
KCNK17p.T113S
Missense
SNP
0.554
2--
KCNK3-
-
-
-
3Gain-
KCNK9-
-
-
-
3Gain-
KCNMB2-
-
-
-
3Gain-
KCNMB3-
-
-
-
3Gain-
KCNN1-
-
-
-
1Loss-
KCNQ1-
-
-
-
1Loss-
KCNQ3-
-
-
-
3Gain-
KCNS2-
-
-
-
3Gain-
KCNS3-
-
-
-
3Gain-
KCNT1-
-
-
-
1Loss-
KCNU1-
-
-
-
1Loss-
KCNV1-
-
-
-
3Gain-
KCNV2-
-
-
-
1Loss-
KCTD1-
-
-
-
10Amp-
KCTD18-
-
-
-
3Gain-
KCTD6-
-
-
-
1Loss-
KCTD8p.K149N
Missense
SNP
0.944
2--
KCTD9-
-
-
-
1Loss-
KDM4B-
-
-
-
1Loss-
KDM4C-
-
-
-
1Loss-
KDSR-
-
-
-
1Loss-
KEAP1-
-
-
-
1Loss-
KHDRBS3-
-
-
-
3Gain-
KHK-
-
-
-
3Gain-
KHNYN-
-
-
-
1Loss-
KHSRP-
-
-
-
1Loss-
KIAA0319p.S667R
Missense
SNP
0.568
2--
KIAA0586p.V1169G
Missense
SNP
0.431
2--
KIAA1143-
-
-
-
1Loss-
KIAA1257-
-
-
-
3Gain-
KIAA1324p.V818I
Missense
SNP
0.479
2--
KIAA1328-
-
-
-
1Loss-
KIAA1549L-
-
-
-
1Loss-
KIAA1551p.Q1487*
Nonsense
SNP
0.417
2--
KIAA1841-
-
-
-
3Gain-
KIAA1958p.L465F
Missense
SNP
0.962
1Loss-
KIAA2026-
-
-
-
1Loss-
KIDINS220-
-
-
-
3Gain-
KIF12-
-
-
-
1Loss-
KIF13B-
-
-
-
1Loss-
KIF15-
-
-
-
1Loss-
KIF18A-
-
-
-
1Loss-
KIF23-
-
-
-
1Loss-
KIF24-
-
-
-
1Loss-
KIF26Bp.T873M
Missense
SNP
0.421
2--
KIF27-
-
-
-
1Loss-
KIF3C-
-
-
-
3Gain-
KIF4Bp.V42E
Missense
SNP
0.459
2--
KIF5A-
-
-
-
3Gain-
KIF6p.E518V
Missense
SNP
0.521
2--
KIF9-
-
-
-
1Loss-
KIFC2-
-
-
-
3Gain-
KIR2DL3p.R169C
Missense
SNP
0.069
2--
KIR2DS4p.Q214K
Missense
SNP
0.977
NDND-
KISS1R-
-
-
-
1Loss-
KLF1-
-
-
-
1Loss-
KLF10-
-
-
-
3Gain-
KLF11-
-
-
-
3Gain-
KLF13-
-
-
-
1Loss-
KLF15-
-
-
-
3Gain-
KLF16-
-
-
-
1Loss-
KLF2-
-
-
-
1Loss-
KLF4-
-
-
-
1Loss-
KLF9-
-
-
-
1Loss-
KLHDC8B-
-
-
-
1Loss-
KLHL14-
-
-
-
13Amp-
KLHL18-
-
-
-
1Loss-
KLHL24-
-
-
-
3Gain-
KLHL26-
-
-
-
1Loss-
KLHL29-
-
-
-
3Gain-
KLHL33-
-
-
-
1Loss-
KLHL38-
-
-
-
3Gain-
KLHL40-
-
-
-
1Loss-
KLHL6-
-
-
-
3Gain-
KLHL9-
-
-
-
1Loss-
KMT2Dp.E4434Rfs*7
Frame_Shift_Del
DEL
0.417
2--
KNDC1-
-
-
-
1Loss-
KNG1-
-
-
-
3Gain-
KNL1-
-
-
-
1Loss-
KNSTRN-
-
-
-
1Loss-
KPNA1-
-
-
-
3Gain-
KPNA4-
-
-
-
3Gain-
KPRP-
-
-
-
3Gain-
KRBOX1-
-
-
-
1Loss-
KRI1-
-
-
-
1Loss-
KRT7p.L361Q
Missense
SNP
0.448
2--
KRTAP5-1-
-
-
-
1Loss-
KRTAP5-2-
-
-
-
1Loss-
KRTAP5-3p.C194S
Missense
SNP
0.211
1Loss-
KRTAP5-4-
-
-
-
1Loss-
KRTAP5-5-
-
-
-
1Loss-
KRTAP5-6-
-
-
-
1Loss-
KRTAP5-8p.S136A
Missense
SNP
0.470
2--
KRTCAP3-
-
-
-
3Gain-
KXD1-
-
-
-
1Loss-
KYp.G576V
Missense
SNP
0.671
3Gain-
KYAT1-
-
-
-
1Loss-
LACTB-
-
-
-
1Loss-
LACTB2p.I160F
Missense
SNP
0.333
3Gain-
LAMB2-
-
-
-
1Loss-
LAMC3-
-
-
-
1Loss-
LAMP3-
-
-
-
3Gain-
LAPTM4A-
-
-
-
3Gain-
LAPTM4B-
-
-
-
3Gain-
LARGE2-
-
-
-
1Loss-
LARP6-
-
-
-
1Loss-
LARS2-
-
-
-
1Loss-
LBH-
-
-
-
3Gain-
LCE2A-
-
-
-
3Gain-
LCE2B-
-
-
-
3Gain-
LCE2C-
-
-
-
3Gain-
LCE2D-
-
-
-
3Gain-
LCE3A-
-
-
-
3Gain-
LCE3D-
-
-
-
3Gain-
LCE3E-
-
-
-
3Gain-
LCE4A-
-
-
-
3Gain-
LCE5A-
-
-
-
3Gain-
LCLAT1-
-
-
-
3Gain-
LCMT2-
-
-
-
1Loss-
LCN1-
-
-
-
1Loss-
LCN10-
-
-
-
1Loss-
LCN12-
-
-
-
1Loss-
LCN15-
-
-
-
1Loss-
LCN2-
-
-
-
1Loss-
LCN6-
-
-
-
1Loss-
LCN8-
-
-
-
1Loss-
LCN9-
-
-
-
1Loss-
LCNL1-
-
-
-
1Loss-
LCTL-
-
-
-
1Loss-
LDAH-
-
-
-
3Gain-
LDHA-
-
-
-
1Loss-
LDHAL6A-
-
-
-
1Loss-
LDHAL6B-
-
-
-
1Loss-
LDHC-
-
-
-
1Loss-
LDLR-
-
-
-
1Loss-
LDLRAD3-
-
-
-
1Loss-
LEKR1-
-
-
-
3Gain-
LEO1-
-
-
-
1Loss-
LEPROTL1-
-
-
-
1Loss-
LETM2-
-
-
-
1Loss-
LFNGp.D201Y
Missense
SNP
0.421
2--
LGALSL-
-
-
-
3Gain-
LGI3-
-
-
-
1Loss-
LGR4-
-
-
-
1Loss-
LHCGRp.R342L
Missense
SNP
0.251
3Gain-
LHFPL2p.Y174*
Nonsense
SNP
0.440
2--
LHFPL4-
-
-
-
1Loss-
LHX2-
-
-
-
1Loss-
LHX3-
-
-
-
1Loss-
LHX6-
-
-
-
1Loss-
LIFRp.D922N
Missense
SNP
0.488
2--
LIMD1-
-
-
-
1Loss-
LIN7C-
-
-
-
1Loss-
LINC02203-
-
-
-
1Loss-
LINGO2-
-
-
-
1Loss-
LINGO3-
-
-
-
1Loss-
LIPC-
-
-
-
1Loss-
LIPG-
-
-
-
1Loss-
LIPH-
-
-
-
3Gain-
LMAN1-
-
-
-
1Loss-
LMAN1L-
-
-
-
1Loss-
LMCD1-
-
-
-
1Loss-
LMLN-
-
-
-
3Gain-
LMLN2-
-
-
-
1Loss-
LMNB2-
-
-
-
1Loss-
LMNTD2-
-
-
-
1Loss-
LMO1-
-
-
-
1Loss-
LMO2-
-
-
-
1Loss-
LMOD3-
-
-
-
1Loss-
LMX1B-
-
-
-
1Loss-
LNP1-
-
-
-
3Gain-
LNPEPp.T396A
Missense
SNP
0.377
2--
LONP1-
-
-
-
1Loss-
LONRF1-
-
-
-
1Loss-
LOXHD1-
-
-
-
1Loss-
LOXL1-
-
-
-
1Loss-
LOXL2-
-
-
-
1Loss-
LPAp.W1298*
Nonsense
SNP
0.544
2--
LPAR1-
-
-
-
1Loss-
LPAR2-
-
-
-
1Loss-
LPCAT4-
-
-
-
1Loss-
LPIN1-
-
-
-
3Gain-
LPL-
-
-
-
1Loss-
LPP-
-
-
-
3Gain-
LRCH3-
-
-
-
3Gain-
LRG1-
-
-
-
1Loss-
LRIG1-
-
-
-
1Loss-
LRP10-
-
-
-
1Loss-
LRP12-
-
-
-
3Gain-
LRP4-
-
-
-
1Loss-
LRPPRC-
-
-
-
3Gain-
LRRC14-
-
-
-
3Gain-
LRRC15-
-
-
-
3Gain-
LRRC16Ap.R125*
Nonsense
SNP
0.462
NDND-
LRRC19-
-
-
-
1Loss-
LRRC2-
-
-
-
1Loss-
LRRC24-
-
-
-
3Gain-
LRRC25-
-
-
-
1Loss-
LRRC26-
-
-
-
1Loss-
LRRC31-
-
-
-
3Gain-
LRRC34-
-
-
-
3Gain-
LRRC3B-
-
-
-
1Loss-
LRRC49-
-
-
-
1Loss-
LRRC4C-
-
-
-
1Loss-
LRRC55p.G216Afs*17
Frame_Shift_Del
DEL
0.487
2--
LRRC56-
-
-
-
1Loss-
LRRC57-
-
-
-
1Loss-
LRRC58-
-
-
-
3Gain-
LRRC6-
-
-
-
3Gain-
LRRC69-
-
-
-
3Gain-
LRRC8A-
-
-
-
1Loss-
LRRC8E-
-
-
-
1Loss-
LRRCC1-
-
-
-
3Gain-
LRRFIP2-
-
-
-
1Loss-
LRRIQ4-
-
-
-
3Gain-
LRRN1-
-
-
-
1Loss-
LRSAM1-
-
-
-
1Loss-
LRTM1-
-
-
-
1Loss-
LSAMP-
-
-
-
3Gain-
LSG1-
-
-
-
3Gain-
LSM1-
-
-
-
1Loss-
LSM3-
-
-
-
1Loss-
LSM4-
-
-
-
1Loss-
LSM7-
-
-
-
1Loss-
LSMEM2-
-
-
-
1Loss-
LSP1-
-
-
-
1Loss-
LTB4R-
-
-
-
1Loss-
LTB4R2-
-
-
-
1Loss-
LTBP1-
-
-
-
3Gain-
LTF-
-
-
-
1Loss-
LTK-
-
-
-
1Loss-
LURAP1L-
-
-
-
1Loss-
LUZP2-
-
-
-
1Loss-
LXN-
-
-
-
3Gain-
LY6D-
-
-
-
3Gain-
LY6E-
-
-
-
3Gain-
LY6H-
-
-
-
3Gain-
LY6K-
-
-
-
3Gain-
LY6L-
-
-
-
3Gain-
LY96-
-
-
-
3Gain-
LYL1-
-
-
-
1Loss-
LYN-
-
-
-
3Gain-
LYNX1-
-
-
-
3Gain-
LYNX1-SLURP2-
-
-
-
3Gain-
LYPD2-
-
-
-
3Gain-
LYPLA1-
-
-
-
3Gain-
LYSMD2-
-
-
-
1Loss-
LYVE1-
-
-
-
1Loss-
LYZL4-
-
-
-
1Loss-
LZTFL1-
-
-
-
1Loss-
LZTS1-
-
-
-
1Loss-
MAATS1-
-
-
-
3Gain-
MACF1p.P5294R
Missense
SNP
0.534
2--
MADCAM1-
-
-
-
1Loss-
MADD-
-
-
-
1Loss-
MAF1-
-
-
-
3Gain-
MAFA-
-
-
-
3Gain-
MAGEE1p.L357Cfs*8
Frame_Shift_Del
DEL
0.929
NDND-
MAGEF1p.A66S
Missense
SNP
0.053
3Gain-
MAGEL2-
-
-
-
1Loss-
MAGI1-
-
-
-
1Loss-
MAK16-
-
-
-
1Loss-
MAL2-
-
-
-
3Gain-
MALAT1-
-
-
-
NDNDMALAT1--RNA5-8SN2
MALT1-
-
-
-
1Loss-
MAMDC2-
-
-
-
1Loss-
MAMDC4-
-
-
-
1Loss-
MAN1B1-
-
-
-
1Loss-
MAN2B1-
-
-
-
1Loss-
MAN2C1-
-
-
-
1Loss-
MANF-
-
-
-
1Loss-
MAP1A-
-
-
-
1Loss-
MAP1S-
-
-
-
1Loss-
MAP2K1-
-
-
-
1Loss-
MAP2K2-
-
-
-
1Loss-
MAP2K5-
-
-
-
1Loss-
MAP2K7-
-
-
-
1Loss-
MAP3K13-
-
-
-
3Gain-
MAP4p.R23Q
Missense
SNP
0.075
1Loss-
MAP4K3-
-
-
-
3Gain-
MAP6D1-
-
-
-
3Gain-
MAPK15-
-
-
-
3Gain-
MAPK4-
-
-
-
1Loss-
MAPK6-
-
-
-
1Loss-
MAPK8IP1-
-
-
-
1Loss-
MAPK8IP2p.A188V
Missense
SNP
0.417
2--
MAPKAP1-
-
-
-
1Loss-
MAPKAPK3-
-
-
-
1Loss-
MAPKBP1-
-
-
-
1Loss-
MAPRE2-
-
-
-
1Loss-
MAPRE3-
-
-
-
3Gain-
MARCH2-
-
-
-
1Loss-
MARS-
-
-
-
3Gain-
MASP1-
-
-
-
3Gain-
MAST1-
-
-
-
1Loss-
MAST3-
-
-
-
1Loss-
MATK-
-
-
-
1Loss-
MATN2-
-
-
-
3Gain-
MATN3-
-
-
-
3Gain-
MAU2-
-
-
-
1Loss-
MB21D2-
-
-
-
3Gain-
MBD1-
-
-
-
1Loss-
MBD2-
-
-
-
1Loss-
MBD3-
-
-
-
1Loss-
MBD3L1-
-
-
-
1Loss-
MBD3L4-
-
-
-
1Loss-
MBD3L5-
-
-
-
1Loss-
MBD4-
-
-
-
3Gain-
MBD6-
-
-
-
3Gain-
MBNL1-
-
-
-
3Gain-
MBOAT2-
-
-
-
3Gain-
MBOAT4-
-
-
-
1Loss-
MBP-
-
-
-
1Loss-
MC4R-
-
-
-
1Loss-
MCCC1-
-
-
-
3Gain-
MCEE-
-
-
-
3Gain-
MCEMP1-
-
-
-
1Loss-
MCF2L2-
-
-
-
3Gain-
MCFD2-
-
-
-
3Gain-
MCHR2p.H91D
Missense
SNP
0.417
2--
MCM2-
-
-
-
3Gain-
MCM4-
-
-
-
3Gain-
MCMDC2-
-
-
-
3Gain-
MCOLN1-
-
-
-
1Loss-
MCPH1-
-
-
-
1Loss-
MCTP1-
-
-
-
1Loss-
MDH1-
-
-
-
3Gain-
MDK-
-
-
-
1Loss-
MDP1-
-
-
-
1Loss-
ME2-
-
-
-
1Loss-
MECOM-
-
-
-
3Gain-
MED12L-
-
-
-
3Gain-
MED16-
-
-
-
1Loss-
MED22-
-
-
-
1Loss-
MED24p.E433Q
Missense
SNP
0.496
2--
MED26-
-
-
-
1Loss-
MED27-
-
-
-
1Loss-
MED30-
-
-
-
3Gain-
MEF2B-
-
-
-
1Loss-
MEGF11-
-
-
-
1Loss-
MEGF9-
-
-
-
1Loss-
MEIS1-
-
-
-
3Gain-
MEIS2-
-
-
-
1Loss-
MELK-
-
-
-
1Loss-
MELTF-
-
-
-
3Gain-
MEMO1-
-
-
-
3Gain-
MEP1B-
-
-
-
13Amp-
METTL15-
-
-
-
1Loss-
METTL17-
-
-
-
1Loss-
METTL3-
-
-
-
1Loss-
METTL6-
-
-
-
1Loss-
MEX3C-
-
-
-
1Loss-
MEX3D-
-
-
-
1Loss-
MFAP1-
-
-
-
1Loss-
MFHAS1-
-
-
-
1Loss-
MFN1-
-
-
-
3Gain-
MFSD1-
-
-
-
3Gain-
MFSD12-
-
-
-
1Loss-
MFSD14B-
-
-
-
1Loss-
MFSD14C-
-
-
-
1Loss-
MFSD2B-
-
-
-
3Gain-
MFSD3-
-
-
-
3Gain-
MGA-
-
-
-
1Loss-
MGLL-
-
-
-
3Gain-
MICAL2-
-
-
-
1Loss-
MICU3-
-
-
-
1Loss-
MIDN-
-
-
-
1Loss-
MIER2-
-
-
-
1Loss-
MIGA2-
-
-
-
1Loss-
MINDY2-
-
-
-
1Loss-
MINDY4B-
-
-
-
3Gain-
MISP-
-
-
-
1Loss-
MISP3-
-
-
-
1Loss-
MITF-
-
-
-
1Loss-
MKNK2-
-
-
-
1Loss-
MKRN2-
-
-
-
1Loss-
MKRN2OS-
-
-
-
1Loss-
MKRN3-
-
-
-
1Loss-
MLANA-
-
-
-
1Loss-
MLF1-
-
-
-
3Gain-
MLH1-
-
-
-
1Loss-
MLLT1-
-
-
-
1Loss-
MLLT3-
-
-
-
1Loss-
MME-
-
-
-
3Gain-
MMP14-
-
-
-
1Loss-
MMP16-
-
-
-
3Gain-
MMP26-
-
-
-
1Loss-
MNS1-
-
-
-
1Loss-
MOB2-
-
-
-
1Loss-
MOB3A-
-
-
-
1Loss-
MOB3B-
-
-
-
1Loss-
MOBP-
-
-
-
1Loss-
MOCOS-
-
-
-
1Loss-
MON1A-
-
-
-
1Loss-
MORC1-
-
-
-
3Gain-
MORN2-
-
-
-
3Gain-
MORN5-
-
-
-
1Loss-
MOS-
-
-
-
3Gain-
MPDZ-
-
-
-
1Loss-
MPHOSPH10-
-
-
-
3Gain-
MPHOSPH8-
-
-
-
3Gain-
MPI-
-
-
-
1Loss-
MPLp.Q527K
Missense
SNP
0.469
2--
MPND-
-
-
-
1Loss-
MPPED2-
-
-
-
1Loss-
MPV17-
-
-
-
3Gain-
MPV17L2-
-
-
-
1Loss-
MRAS-
-
-
-
3Gain-
MRGPRE-
-
-
-
1Loss-
MRGPRG-
-
-
-
1Loss-
MRGPRX1-
-
-
-
1Loss-
MRGPRX2-
-
-
-
1Loss-
MRGPRX3-
-
-
-
1Loss-
MRGPRX4-
-
-
-
1Loss-
MRI1-
-
-
-
1Loss-
MRO-
-
-
-
1Loss-
MROH1-
-
-
-
3Gain-
MROH2Bp.R1576I
Missense
SNP
0.457
2--
MROH5p.Q66K
Missense
SNP
0.341
3Gain-
MROH6-
-
-
-
3Gain-
MRPL13-
-
-
-
3Gain-
MRPL15-
-
-
-
3Gain-
MRPL17-
-
-
-
1Loss-
MRPL23-
-
-
-
1Loss-
MRPL3-
-
-
-
3Gain-
MRPL33-
-
-
-
3Gain-
MRPL34-
-
-
-
1Loss-
MRPL4-
-
-
-
1Loss-
MRPL41-
-
-
-
1Loss-
MRPL47-
-
-
-
3Gain-
MRPL50-
-
-
-
1Loss-
MRPL52-
-
-
-
1Loss-
MRPL54-
-
-
-
1Loss-
MRPS2-
-
-
-
1Loss-
MRPS22-
-
-
-
3Gain-
MRPS25-
-
-
-
1Loss-
MRPS28-
-
-
-
3Gain-
MRPS9p.R377W
Missense
SNP
0.483
2--
MRRF-
-
-
-
1Loss-
MRVI1-
-
-
-
1Loss-
MS4A6Ep.T107S
Missense
SNP
0.457
2--
MSANTD3-
-
-
-
1Loss-
MSANTD3-TMEFF1-
-
-
-
1Loss-
MSC-
-
-
-
3Gain-
MSGN1-
-
-
-
3Gain-
MSH2-
-
-
-
3Gain-
MSH6-
-
-
-
3Gain-
MSL2-
-
-
-
3Gain-
MSMP-
-
-
-
1Loss-
MSR1-
-
-
-
1Loss-
MSRA-
-
-
-
1Loss-
MST1-
-
-
-
1Loss-
MST1R-
-
-
-
1Loss-
MSX2p.T101N
Missense
SNP
0.402
2--
MTA3-
-
-
-
3Gain-
MTAP-
-
-
-
1Loss-
MTBP-
-
-
-
3Gain-
MTCH2-
-
-
-
1Loss-
MTDH-
-
-
-
3Gain-
MTERF3-
-
-
-
3Gain-
MTFMT-
-
-
-
1Loss-
MTFR1-
-
-
-
3Gain-
MTG1-
-
-
-
1Loss-
MTIF2-
-
-
-
3Gain-
MTMR10-
-
-
-
1Loss-
MTMR14-
-
-
-
1Loss-
MTMR4p.N632K
Missense
SNP
0.473
2--
MTMR7-
-
-
-
1Loss-
MTMR9-
-
-
-
1Loss-
MTSS1-
-
-
-
3Gain-
MTUS1-
-
-
-
1Loss-
MUC13-
-
-
-
3Gain-
MUC15-
-
-
-
1Loss-
MUC16-
-
-
-
1Loss-
MUC2-
-
-
-
1Loss-
MUC20-
-
-
-
3Gain-
MUC4p.H3421Q
p.P1554H
Missense
Missense
SNP
SNP
0.144
0.139
3Gain-
MUC5AC-
-
-
-
1Loss-
MUC5B-
-
-
-
1Loss-
MUC6-
-
-
-
1Loss-
MUM1-
-
-
-
1Loss-
MUSK-
-
-
-
1Loss-
MUSTN1-
-
-
-
1Loss-
MVB12A-
-
-
-
1Loss-
MVB12B-
-
-
-
1Loss-
MXD1-
-
-
-
3Gain-
MYBL1-
-
-
-
3Gain-
MYBPC3-
-
-
-
1Loss-
MYC-
-
-
-
3Gain-
MYCN-
-
-
-
3Gain-
MYD88-
-
-
-
1Loss-
MYDGF-
-
-
-
1Loss-
MYEF2-
-
-
-
1Loss-
MYH15-
-
-
-
3Gain-
MYH4p.K1056*
Nonsense
SNP
0.503
2--
MYH6-
-
-
-
1Loss-
MYH7-
-
-
-
1Loss-
MYL3-
-
-
-
1Loss-
MYLK-
-
-
-
3Gain-
MYMK-
-
-
-
1Loss-
MYNN-
-
-
-
3Gain-
MYO18Bp.A210S
Missense
SNP
0.443
2--
MYO1E-
-
-
-
1Loss-
MYO1Fp.G1081R
Missense
SNP
0.951
1Loss-
MYO3Bp.P705T
Missense
SNP
0.544
2--
MYO5A-
-
-
-
1Loss-
MYO5B-
-
-
-
1Loss-
MYO5C-
-
-
-
1Loss-
MYO9A-
-
-
-
1Loss-
MYO9B-
-
-
-
1Loss-
MYOD1-
-
-
-
1Loss-
MYOM2-
-
-
-
1Loss-
MYORG-
-
-
-
1Loss-
MYRIP-
-
-
-
1Loss-
MYT1L-
-
-
-
3Gain-
MYZAP-
-
-
-
1Loss-
NAA25-
-
-
-
1Loss-
NAA35-
-
-
-
1Loss-
NAA50-
-
-
-
3Gain-
NAA80-
-
-
-
1Loss-
NAALADL2-
-
-
-
3Gain-
NACC1-
-
-
-
1Loss-
NACC2-
-
-
-
1Loss-
NAGK-
-
-
-
3Gain-
NAIF1-
-
-
-
1Loss-
NANOGP8-
-
-
-
1Loss-
NANOS3-
-
-
-
1Loss-
NANS-
-
-
-
1Loss-
NAP1L4-
-
-
-
1Loss-
NAPRT-
-
-
-
3Gain-
NARS-
-
-
-
1Loss-
NAT1-
-
-
-
1Loss-
NAT10-
-
-
-
1Loss-
NAT2-
-
-
-
1Loss-
NAV2-
-
-
-
1Loss-
NAV3p.K1259*
Nonsense
SNP
0.429
2--
NBAS-
-
-
-
3Gain-
NBEAL2-
-
-
-
1Loss-
NBN-
-
-
-
3Gain-
NBR1p.R105M
Missense
SNP
0.487
2--
NCALD-
-
-
-
3Gain-
NCAN-
-
-
-
1Loss-
NCBP1-
-
-
-
1Loss-
NCBP2-
-
-
-
3Gain-
NCBP2-AS2-
-
-
-
3Gain-
NCEH1-
-
-
-
3Gain-
NCK1-
-
-
-
3Gain-
NCKAP5p.E858A
Missense
SNP
0.552
2--
NCKIPSD-
-
-
-
1Loss-
NCLN-
-
-
-
1Loss-
NCOA1-
-
-
-
3Gain-
NCOA2-
-
-
-
3Gain-
NCOR2p.S1973C
Missense
SNP
0.406
2--
NCR3LG1-
-
-
-
1Loss-
NCS1-
-
-
-
1Loss-
NDN-
-
-
-
1Loss-
NDOR1-
-
-
-
1Loss-
NDRG1-
-
-
-
3Gain-
NDRG2-
-
-
-
1Loss-
NDUFA11-
-
-
-
1Loss-
NDUFA13-
-
-
-
1Loss-
NDUFA7-
-
-
-
1Loss-
NDUFA8-
-
-
-
1Loss-
NDUFAF1-
-
-
-
1Loss-
NDUFAF3-
-
-
-
1Loss-
NDUFAF6-
-
-
-
3Gain-
NDUFAF7-
-
-
-
3Gain-
NDUFB4-
-
-
-
3Gain-
NDUFB5-
-
-
-
3Gain-
NDUFB6-
-
-
-
1Loss-
NDUFB7-
-
-
-
1Loss-
NDUFB9-
-
-
-
3Gain-
NDUFS3-
-
-
-
1Loss-
NDUFS7-
-
-
-
1Loss-
NECAB1-
-
-
-
3Gain-
NECTIN3-
-
-
-
3Gain-
NEDD4-
-
-
-
1Loss-
NEDD4L-
-
-
-
1Loss-
NEDD8-
-
-
-
1Loss-
NEDD8-MDP1-
-
-
-
1Loss-
NEFL-
-
-
-
1Loss-
NEFM-
-
-
-
1Loss-
NEIL1-
-
-
-
1Loss-
NEIL2-
-
-
-
1Loss-
NEK10-
-
-
-
1Loss-
NEK11-
-
-
-
3Gain-
NEK4-
-
-
-
1Loss-
NEK6-
-
-
-
1Loss-
NELFB-
-
-
-
1Loss-
NELL1-
-
-
-
1Loss-
NELL2p.D197N
Missense
SNP
0.439
2--
NEO1-
-
-
-
1Loss-
NEPRO-
-
-
-
3Gain-
NETO1-
-
-
-
1Loss-
NEUROD1p.S319*
Nonsense
SNP
0.491
2--
NFATC1-
-
-
-
1Loss-
NFATC4-
-
-
-
1Loss-
NFIB-
-
-
-
1Loss-
NFIC-
-
-
-
1Loss-
NFIL3-
-
-
-
1Loss-
NFIX-
-
-
-
1Loss-
NFKBIZ-
-
-
-
3Gain-
NFU1-
-
-
-
3Gain-
NFX1-
-
-
-
1Loss-
NGDN-
-
-
-
1Loss-
NGLY1-
-
-
-
1Loss-
NICN1-
-
-
-
1Loss-
NINJ1-
-
-
-
1Loss-
NIPA1-
-
-
-
1Loss-
NIPA2-
-
-
-
1Loss-
NIPAL2-
-
-
-
3Gain-
NIPSNAP3A-
-
-
-
1Loss-
NIPSNAP3B-
-
-
-
1Loss-
NISCH-
-
-
-
1Loss-
NIT2-
-
-
-
3Gain-
NKAIN3-
-
-
-
3Gain-
NKIRAS1-
-
-
-
1Loss-
NKTR-
-
-
-
1Loss-
NKX2-6-
-
-
-
1Loss-
NKX3-1-
-
-
-
1Loss-
NKX6-3-
-
-
-
1Loss-
NLGN1-
-
-
-
3Gain-
NLGN2p.W438L
Missense
SNP
0.472
2--
NLRC4-
-
-
-
3Gain-
NLRP10-
-
-
-
1Loss-
NLRP12p.N941K
Missense
SNP
1.000
2--
NLRP14-
-
-
-
1Loss-
NLRP6-
-
-
-
1Loss-
NMD3-
-
-
-
3Gain-
NME6-
-
-
-
1Loss-
NME9-
-
-
-
3Gain-
NMNAT3-
-
-
-
3Gain-
NMRK1-
-
-
-
1Loss-
NMRK2-
-
-
-
1Loss-
NOL10-
-
-
-
3Gain-
NOL4-
-
-
-
13Amp-
NOL6-
-
-
-
1Loss-
NOL8-
-
-
-
1Loss-
NOP10-
-
-
-
1Loss-
NOP9-
-
-
-
1Loss-
NOTCH1-
-
-
-
1Loss-
NOTCH3-
-
-
-
1Loss-
NOV-
-
-
-
3Gain-
NOVA1-
-
-
-
1Loss-
NOX4p.E323D
Missense
SNP
0.494
2--
NOX5-
-
-
-
1Loss-
NOXA1-
-
-
-
1Loss-
NPAP1-
-
-
-
1Loss-
NPAS3-
-
-
-
1Loss-
NPBWR1-
-
-
-
3Gain-
NPDC1-
-
-
-
1Loss-
NPFFR2p.S17R
Missense
SNP
0.949
2--
NPHP3-
-
-
-
3Gain-
NPHP3-ACAD11-
-
-
-
3Gain-
NPHS2p.E56Sfs*43
Frame_Shift_Del
DEL
0.056
2--
NPM2-
-
-
-
1Loss-
NPR1p.R439H
Missense
SNP
0.505
2--
NPR2-
-
-
-
1Loss-
NPRL2-
-
-
-
1Loss-
NPTN-
-
-
-
1Loss-
NR1D2-
-
-
-
1Loss-
NR1H3-
-
-
-
1Loss-
NR1I2-
-
-
-
3Gain-
NR2C2-
-
-
-
1Loss-
NR2C2AP-
-
-
-
1Loss-
NR2E3-
-
-
-
1Loss-
NR2F6-
-
-
-
1Loss-
NR4A3-
-
-
-
1Loss-
NR5A1-
-
-
-
1Loss-
NR6A1-
-
-
-
1Loss-
NRARP-
-
-
-
1Loss-
NRBP1-
-
-
-
3Gain-
NRBP2-
-
-
-
3Gain-
NRG1-
-
-
-
1Loss-
NRG3p.T262P
p.P553H
Missense
Missense
SNP
SNP
0.472
0.385
2--
NRIP3-
-
-
-
1Loss-
NRL-
-
-
-
1Loss-
NRROS-
-
-
-
3Gain-
NRTN-
-
-
-
1Loss-
NRXN1-
-
-
-
3Gain-
NSD3-
-
-
-
1Loss-
NSMAF-
-
-
-
3Gain-
NSMCE2-
-
-
-
3Gain-
NSMCE3-
-
-
-
1Loss-
NSMF-
-
-
-
1Loss-
NSUN3-
-
-
-
3Gain-
NSUN6p.G134R
Missense
SNP
0.442
2--
NT5C1B-
-
-
-
3Gain-
NT5C1B-RDH14-
-
-
-
3Gain-
NT5DC2-
-
-
-
1Loss-
NTMT1-
-
-
-
1Loss-
NTNG2-
-
-
-
1Loss-
NTRK2-
-
-
-
1Loss-
NTRK3p.G59A
Missense
SNP
0.466
2--
NTSR2-
-
-
-
3Gain-
NUBPL-
-
-
-
1Loss-
NUCB2-
-
-
-
1Loss-
NUDCD1-
-
-
-
3Gain-
NUDT16-
-
-
-
3Gain-
NUDT18-
-
-
-
1Loss-
NUDT2-
-
-
-
1Loss-
NUGGC-
-
-
-
1Loss-
NUP160-
-
-
-
1Loss-
NUP188-
-
-
-
1Loss-
NUP210-
-
-
-
1Loss-
NUP214p.F1806L
Missense
SNP
0.943
1Loss-
NUP93p.R327C
Missense
SNP
0.524
2--
NUP98-
-
-
-
1Loss-
NUSAP1-
-
-
-
1Loss-
NUTM1-
-
-
-
1Loss-
NUTM2F-
-
-
-
1Loss-
NUTM2G-
-
-
-
1Loss-
NWD1-
-
-
-
1Loss-
NXNL1-
-
-
-
1Loss-
NXNL2-
-
-
-
1Loss-
NXPE3-
-
-
-
3Gain-
NYNRIN-
-
-
-
1Loss-
OAZ1-
-
-
-
1Loss-
OAZ2-
-
-
-
1Loss-
OBP2A-
-
-
-
1Loss-
OBP2B-
-
-
-
1Loss-
OBSCNp.R7762W
Missense
SNP
0.054
2--
OBSL1p.G701V
Missense
SNP
0.539
2--
OC90-
-
-
-
3Gain-
OCA2p.G795R
Missense
SNP
0.972
1Loss-
OCEL1-
-
-
-
1Loss-
ODC1-
-
-
-
3Gain-
ODF1-
-
-
-
3Gain-
ODF2-
-
-
-
1Loss-
ODF3-
-
-
-
1Loss-
ODF3L2-
-
-
-
1Loss-
OGG1-
-
-
-
1Loss-
OGN-
-
-
-
1Loss-
OIP5-
-
-
-
1Loss-
OLFM1-
-
-
-
1Loss-
OLFM2-
-
-
-
1Loss-
OLFML1-
-
-
-
1Loss-
OLFML2A-
-
-
-
1Loss-
OLFML2Bp.W471R
Missense
SNP
0.063
2--
OMD-
-
-
-
1Loss-
ONECUT1-
-
-
-
1Loss-
ONECUT2-
-
-
-
1Loss-
ONECUT3-
-
-
-
1Loss-
OPA1-
-
-
-
3Gain-
OPLAH-
-
-
-
3Gain-
OPRK1-
-
-
-
3Gain-
OR10A2-
-
-
-
1Loss-
OR10A3-
-
-
-
1Loss-
OR10A4-
-
-
-
1Loss-
OR10A5-
-
-
-
1Loss-
OR10A6-
-
-
-
1Loss-
OR10G2-
-
-
-
1Loss-
OR10G3-
-
-
-
1Loss-
OR10H1-
-
-
-
1Loss-
OR10H2-
-
-
-
1Loss-
OR10H3-
-
-
-
1Loss-
OR10H4-
-
-
-
1Loss-
OR10H5p.R90H
Missense
SNP
0.068
1Loss-
OR11A1p.T251A
Missense
SNP
0.390
2--
OR11G2-
-
-
-
1Loss-
OR11H4-
-
-
-
1Loss-
OR11H6-
-
-
-
1Loss-
OR13C2-
-
-
-
1Loss-
OR13C3-
-
-
-
1Loss-
OR13C4-
-
-
-
1Loss-
OR13C5-
-
-
-
1Loss-
OR13C8-
-
-
-
1Loss-
OR13C9-
-
-
-
1Loss-
OR13D1-
-
-
-
1Loss-
OR13F1-
-
-
-
1Loss-
OR13G1p.H241N
Missense
SNP
0.459
2--
OR13J1-
-
-
-
1Loss-
OR1B1-
-
-
-
1Loss-
OR1I1-
-
-
-
1Loss-
OR1J1-
-
-
-
1Loss-
OR1J2-
-
-
-
1Loss-
OR1J4-
-
-
-
1Loss-
OR1K1-
-
-
-
1Loss-
OR1L1-
-
-
-
1Loss-
OR1L3-
-
-
-
1Loss-
OR1L4-
-
-
-
1Loss-
OR1L6-
-
-
-
1Loss-
OR1L8-
-
-
-
1Loss-
OR1M1-
-
-
-
1Loss-
OR1N1-
-
-
-
1Loss-
OR1N2-
-
-
-
1Loss-
OR1Q1-
-
-
-
1Loss-
OR1S1p.E35D
Missense
SNP
0.460
2--
OR2AG1-
-
-
-
1Loss-
OR2AG2-
-
-
-
1Loss-
OR2D2-
-
-
-
1Loss-
OR2D3-
-
-
-
1Loss-
OR2K2-
-
-
-
1Loss-
OR2S2-
-
-
-
1Loss-
OR2T4p.W13L
Missense
SNP
0.592
2--
OR2T5p.L21H
Missense
SNP
0.337
2--
OR2W3p.M181I
Missense
SNP
0.445
2--
OR2Z1-
-
-
-
1Loss-
OR4A47-
-
-
-
1Loss-
OR4B1p.T237N
Missense
SNP
0.060
1Loss-
OR4C12-
-
-
-
1Loss-
OR4C13-
-
-
-
1Loss-
OR4C3-
-
-
-
1Loss-
OR4C5-
-
-
-
1Loss-
OR4D10p.P253S
Missense
SNP
0.443
2--
OR4E2-
-
-
-
1Loss-
OR4F17-
-
-
-
1Loss-
OR4K1-
-
-
-
1Loss-
OR4K13-
-
-
-
1Loss-
OR4K14-
-
-
-
1Loss-
OR4K15-
-
-
-
1Loss-
OR4K17-
-
-
-
1Loss-
OR4K2-
-
-
-
1Loss-
OR4K5-
-
-
-
1Loss-
OR4L1-
-
-
-
1Loss-
OR4M1p.G151E
Missense
SNP
0.466
NDND-
OR4M2-
-
-
-
1Loss-
OR4N2-
-
-
-
1Loss-
OR4N4-
-
-
-
1Loss-
OR4N5-
-
-
-
1Loss-
OR4Q2-
-
-
-
1Loss-
OR4Q3-
-
-
-
1Loss-
OR4S1-
-
-
-
1Loss-
OR4X1-
-
-
-
1Loss-
OR4X2-
-
-
-
1Loss-
OR51A2-
-
-
-
1Loss-
OR51A4-
-
-
-
1Loss-
OR51A7-
-
-
-
1Loss-
OR51B2-
-
-
-
1Loss-
OR51B4-
-
-
-
1Loss-
OR51B5-
-
-
-
1Loss-
OR51B6-
-
-
-
1Loss-
OR51C1P-
-
-
-
1Loss-
OR51D1-
-
-
-
1Loss-
OR51E1-
-
-
-
1Loss-
OR51E2-
-
-
-
1Loss-
OR51F1p.F73S
Missense
SNP
0.054
1Loss-
OR51F2-
-
-
-
1Loss-
OR51G1-
-
-
-
1Loss-
OR51G2-
-
-
-
1Loss-
OR51I1-
-
-
-
1Loss-
OR51I2-
-
-
-
1Loss-
OR51L1-
-
-
-
1Loss-
OR51M1-
-
-
-
1Loss-
OR51Q1-
-
-
-
1Loss-
OR51S1-
-
-
-
1Loss-
OR51T1-
-
-
-
1Loss-
OR51V1-
-
-
-
1Loss-
OR52A1-
-
-
-
1Loss-
OR52A5-
-
-
-
1Loss-
OR52B2-
-
-
-
1Loss-
OR52B4-
-
-
-
1Loss-
OR52B6-
-
-
-
1Loss-
OR52D1-
-
-
-
1Loss-
OR52E2-
-
-
-
1Loss-
OR52E4-
-
-
-
1Loss-
OR52E5-
-
-
-
1Loss-
OR52E6-
-
-
-
1Loss-
OR52E8-
-
-
-
1Loss-
OR52H1-
-
-
-
1Loss-
OR52I1-
-
-
-
1Loss-
OR52I2-
-
-
-
1Loss-
OR52J3-
-
-
-
1Loss-
OR52K1-
-
-
-
1Loss-
OR52K2-
-
-
-
1Loss-
OR52L1p.L148V
Missense
SNP
0.933
1Loss-
OR52M1-
-
-
-
1Loss-
OR52N1-
-
-
-
1Loss-
OR52N2-
-
-
-
1Loss-
OR52N4-
-
-
-
1Loss-
OR52N5-
-
-
-
1Loss-
OR52R1-
-
-
-
1Loss-
OR52W1-
-
-
-
1Loss-
OR56A1-
-
-
-
1Loss-
OR56A3-
-
-
-
1Loss-
OR56A4-
-
-
-
1Loss-
OR56A5-
-
-
-
1Loss-
OR56B1-
-
-
-
1Loss-
OR56B4-
-
-
-
1Loss-
OR5AC2-
-
-
-
3Gain-
OR5AU1-
-
-
-
1Loss-
OR5B12p.V200Cfs*6
Frame_Shift_Ins
INS
0.324
2--
OR5C1-
-
-
-
1Loss-
OR5H1-
-
-
-
3Gain-
OR5H14-
-
-
-
3Gain-
OR5H15-
-
-
-
3Gain-
OR5H2-
-
-
-
3Gain-
OR5H6-
-
-
-
3Gain-
OR5K1-
-
-
-
3Gain-
OR5K2-
-
-
-
3Gain-
OR5K3-
-
-
-
3Gain-
OR5K4-
-
-
-
3Gain-
OR5P2-
-
-
-
1Loss-
OR5P3-
-
-
-
1Loss-
OR6A2-
-
-
-
1Loss-
OR6C3p.R135K
Missense
SNP
0.412
2--
OR6J1-
-
-
-
1Loss-
OR6S1-
-
-
-
1Loss-
OR7A10-
-
-
-
1Loss-
OR7A17-
-
-
-
1Loss-
OR7A5-
-
-
-
1Loss-
OR7C1-
-
-
-
1Loss-
OR7C2-
-
-
-
1Loss-
OR7D2-
-
-
-
1Loss-
OR7D4-
-
-
-
1Loss-
OR7E24-
-
-
-
1Loss-
OR7G1-
-
-
-
1Loss-
OR7G2-
-
-
-
1Loss-
OR7G3-
-
-
-
1Loss-
OR8K3p.N90I
Missense
SNP
0.521
2--
OR9G4p.L47V
Missense
SNP
0.432
2--
OR9Q2p.T246N
Missense
SNP
0.489
2--
ORM1-
-
-
-
1Loss-
ORM2-
-
-
-
1Loss-
OSBPp.S635T
Missense
SNP
0.452
2--
OSBPL10-
-
-
-
1Loss-
OSBPL11-
-
-
-
3Gain-
OSBPL5-
-
-
-
1Loss-
OSGEP-
-
-
-
1Loss-
OSGIN2-
-
-
-
3Gain-
OSR1-
-
-
-
3Gain-
OSR2-
-
-
-
3Gain-
OST4-
-
-
-
3Gain-
OSTF1-
-
-
-
1Loss-
OSTN-
-
-
-
3Gain-
OTOF-
-
-
-
3Gain-
OTOG-
-
-
-
1Loss-
OTOL1-
-
-
-
3Gain-
OTUD6B-
-
-
-
3Gain-
OTUD7A-
-
-
-
1Loss-
OTX1-
-
-
-
3Gain-
OVCH2-
-
-
-
1Loss-
OXA1L-
-
-
-
1Loss-
OXER1-
-
-
-
3Gain-
OXNAD1-
-
-
-
1Loss-
OXR1-
-
-
-
3Gain-
OXSM-
-
-
-
1Loss-
OXSR1-
-
-
-
1Loss-
OXTR-
-
-
-
1Loss-
P2RY1-
-
-
-
3Gain-
P2RY11-
-
-
-
1Loss-
P2RY12-
-
-
-
3Gain-
P2RY13-
-
-
-
3Gain-
P2RY14-
-
-
-
3Gain-
P3H2-
-
-
-
3Gain-
P4HTM-
-
-
-
1Loss-
PABPC1-
-
-
-
3Gain-
PABPC5p.G2V
Missense
SNP
0.922
NDND-
PABPN1-
-
-
-
1Loss-
PACSIN3-
-
-
-
1Loss-
PAEP-
-
-
-
1Loss-
PAG1-
-
-
-
3Gain-
PAIP2B-
-
-
-
3Gain-
PAK2-
-
-
-
3Gain-
PAK6-
-
-
-
1Loss-
PALM-
-
-
-
1Loss-
PALM2-
-
-
-
1Loss-
PALM2-AKAP2-
-
-
-
1Loss-
PALM3-
-
-
-
1Loss-
PAMR1-
-
-
-
1Loss-
PAOX-
-
-
-
1Loss-
PAPOLG-
-
-
-
3Gain-
PAPPA-
-
-
-
1Loss-
PAQR5-
-
-
-
1Loss-
PAQR9-
-
-
-
3Gain-
PARD6G-
-
-
-
1Loss-
PARL-
-
-
-
3Gain-
PARP10-
-
-
-
3Gain-
PARP14p.R231K
Missense
SNP
0.274
3Gain-
PARP15-
-
-
-
3Gain-
PARP16-
-
-
-
1Loss-
PARP2-
-
-
-
1Loss-
PARP3-
-
-
-
1Loss-
PARP6-
-
-
-
1Loss-
PARP9-
-
-
-
3Gain-
PARVA-
-
-
-
1Loss-
PATL2-
-
-
-
1Loss-
PAX3p.R97H
Missense
SNP
0.418
2--
PAX5-
-
-
-
1Loss-
PAX6-
-
-
-
1Loss-
PAXX-
-
-
-
1Loss-
PBK-
-
-
-
1Loss-
PBRM1-
-
-
-
1Loss-
PBX3-
-
-
-
1Loss-
PBX4-
-
-
-
1Loss-
PCARE-
-
-
-
3Gain-
PCBP1-
-
-
-
3Gain-
PCBP4-
-
-
-
1Loss-
PCCB-
-
-
-
3Gain-
PCDH15p.P838R
Missense
SNP
0.467
2--
PCDHA5p.G430V
Missense
SNP
0.505
2--
PCDHB12p.L77Q
Missense
SNP
0.434
2--
PCDHB2p.N240S
Missense
SNP
0.425
2--
PCDHB5p.G740C
Missense
SNP
0.407
2--
PCK2-
-
-
-
1Loss-
PCLAF-
-
-
-
1Loss-
PCLOp.W1104L
Missense
SNP
0.417
2--
PCM1-
-
-
-
1Loss-
PCMTD1-
-
-
-
3Gain-
PCNP-
-
-
-
3Gain-
PCOLCE2-
-
-
-
3Gain-
PCP2-
-
-
-
1Loss-
PCSK2p.E389A
Missense
SNP
0.469
2--
PCSK4-
-
-
-
1Loss-
PCSK5-
-
-
-
1Loss-
PCYOX1-
-
-
-
3Gain-
PCYT1A-
-
-
-
3Gain-
PDCD10-
-
-
-
3Gain-
PDCD1LG2-
-
-
-
1Loss-
PDCD6IP-
-
-
-
1Loss-
PDCD7-
-
-
-
1Loss-
PDCL-
-
-
-
1Loss-
PDE12-
-
-
-
1Loss-
PDE3B-
-
-
-
1Loss-
PDE4A-
-
-
-
1Loss-
PDE4C-
-
-
-
1Loss-
PDE7A-
-
-
-
3Gain-
PDE8Bp.T696M
Missense
SNP
0.390
2--
PDGFDp.E87*
Nonsense
SNP
0.450
2--
PDGFRL-
-
-
-
1Loss-
PDHB-
-
-
-
1Loss-
PDHX-
-
-
-
1Loss-
PDIA3-
-
-
-
1Loss-
PDIA5-
-
-
-
3Gain-
PDIA6-
-
-
-
3Gain-
PDLIM2-
-
-
-
1Loss-
PDP1-
-
-
-
3Gain-
PDS5Ap.P106A
Missense
SNP
0.967
2--
PDZRN3-
-
-
-
1Loss-
PEAK3-
-
-
-
1Loss-
PEBP4-
-
-
-
1Loss-
PELI1-
-
-
-
3Gain-
PELP1p.N405S
Missense
SNP
0.424
2--
PENK-
-
-
-
3Gain-
PET100-
-
-
-
1Loss-
PEX1p.E379Q
Missense
SNP
0.442
2--
PEX11G-
-
-
-
1Loss-
PEX13-
-
-
-
3Gain-
PEX16-
-
-
-
1Loss-
PEX2-
-
-
-
3Gain-
PEX5L-
-
-
-
3Gain-
PFKFB4-
-
-
-
1Loss-
PFN2-
-
-
-
3Gain-
PFN4-
-
-
-
3Gain-
PGAP2-
-
-
-
1Loss-
PGBD4-
-
-
-
1Loss-
PGGHG-
-
-
-
1Loss-
PGLS-
-
-
-
1Loss-
PGLYRP2-
-
-
-
1Loss-
PGM5-
-
-
-
1Loss-
PGPEP1-
-
-
-
1Loss-
PHC2p.H695P
Missense
SNP
0.497
2--
PHC3-
-
-
-
3Gain-
PHF19-
-
-
-
1Loss-
PHF2-
-
-
-
1Loss-
PHF20L1-
-
-
-
3Gain-
PHF21A-
-
-
-
1Loss-
PHF24-
-
-
-
1Loss-
PHF7-
-
-
-
1Loss-
PHGR1-
-
-
-
1Loss-
PHLDA2-
-
-
-
1Loss-
PHLDB2-
-
-
-
3Gain-
PHLPP1-
-
-
-
1Loss-
PHPT1-
-
-
-
1Loss-
PHRF1-
-
-
-
1Loss-
PHYHD1-
-
-
-
1Loss-
PHYHIP-
-
-
-
1Loss-
PI15-
-
-
-
3Gain-
PIAS1-
-
-
-
1Loss-
PIAS2-
-
-
-
1Loss-
PIAS4-
-
-
-
1Loss-
PIDD1-
-
-
-
1Loss-
PIF1-
-
-
-
1Loss-
PIGB-
-
-
-
1Loss-
PIGF-
-
-
-
3Gain-
PIGN-
-
-
-
1Loss-
PIGO-
-
-
-
1Loss-
PIGX-
-
-
-
3Gain-
PIGZ-
-
-
-
3Gain-
PIK3C2A-
-
-
-
1Loss-
PIK3C3-
-
-
-
1Loss-
PIK3CAp.E545K
Missense
SNP
0.264
3Gain-
PIK3CB-
-
-
-
3Gain-
PIK3R2-
-
-
-
1Loss-
PIK3R4-
-
-
-
3Gain-
PIK3R5p.S446R
Missense
SNP
0.500
2--
PIN1-
-
-
-
1Loss-
PINX1-
-
-
-
1Loss-
PIP4K2C-
-
-
-
3Gain-
PIP4P1-
-
-
-
1Loss-
PIP4P2-
-
-
-
3Gain-
PIP5K1B-
-
-
-
1Loss-
PIP5K1C-
-
-
-
1Loss-
PIP5KL1-
-
-
-
1Loss-
PIWIL2-
-
-
-
1Loss-
PKDCC-
-
-
-
3Gain-
PKHD1L1-
-
-
-
3Gain-
PKIA-
-
-
-
3Gain-
PKM-
-
-
-
1Loss-
PKN1-
-
-
-
1Loss-
PKN2p.E862K
Missense
SNP
0.464
2--
PKN3-
-
-
-
1Loss-
PKP3-
-
-
-
1Loss-
PLA1A-
-
-
-
3Gain-
PLA2G4B-
-
-
-
1Loss-
PLA2G4Dp.P10T
Missense
SNP
0.056
1Loss-
PLA2G4E-
-
-
-
1Loss-
PLA2G4F-
-
-
-
1Loss-
PLAA-
-
-
-
1Loss-
PLAG1-
-
-
-
3Gain-
PLAT-
-
-
-
1Loss-
PLB1-
-
-
-
3Gain-
PLCB2-
-
-
-
1Loss-
PLCD1-
-
-
-
1Loss-
PLCG2p.S994F
Missense
SNP
0.429
2--
PLCH1-
-
-
-
3Gain-
PLCL2-
-
-
-
1Loss-
PLCXD2-
-
-
-
3Gain-
PLD1-
-
-
-
3Gain-
PLD2p.R712L
Missense
SNP
0.446
2--
PLEC-
-
-
-
3Gain-
PLEK-
-
-
-
3Gain-
PLEKHA2-
-
-
-
1Loss-
PLEKHA6p.V328Yfs*172
Frame_Shift_Del
DEL
0.051
2--
PLEKHA7-
-
-
-
1Loss-
PLEKHF2-
-
-
-
3Gain-
PLEKHH2-
-
-
-
3Gain-
PLEKHJ1-
-
-
-
1Loss-
PLEKHO2-
-
-
-
1Loss-
PLGRKT-
-
-
-
1Loss-
PLIN2-
-
-
-
1Loss-
PLIN3-
-
-
-
1Loss-
PLIN4-
-
-
-
1Loss-
PLIN5p.F378L
Missense
SNP
0.983
1Loss-
PLK5p.R314Q
Missense
SNP
0.123
1Loss-
PLOD1p.E676K
Missense
SNP
0.466
2--
PLOD2-
-
-
-
3Gain-
PLPBP-
-
-
-
1Loss-
PLPP2-
-
-
-
1Loss-
PLPP5-
-
-
-
1Loss-
PLPP6-
-
-
-
1Loss-
PLPP7-
-
-
-
1Loss-
PLPPR1-
-
-
-
1Loss-
PLPPR2-
-
-
-
1Loss-
PLPPR3-
-
-
-
1Loss-
PLS1-
-
-
-
3Gain-
PLSCR1-
-
-
-
3Gain-
PLSCR2-
-
-
-
3Gain-
PLSCR4-
-
-
-
3Gain-
PLSCR5-
-
-
-
3Gain-
PLVAP-
-
-
-
1Loss-
PLXNA1-
-
-
-
3Gain-
PLXNB1-
-
-
-
1Loss-
PLXNB3p.E1904Q
Missense
SNP
1.000
NDND-
PLXND1-
-
-
-
3Gain-
PMAIP1-
-
-
-
1Loss-
PML-
-
-
-
1Loss-
PMP2-
-
-
-
3Gain-
PMPCA-
-
-
-
1Loss-
PNMA2-
-
-
-
1Loss-
PNO1-
-
-
-
3Gain-
PNOC-
-
-
-
1Loss-
PNP-
-
-
-
1Loss-
PNPLA2-
-
-
-
1Loss-
PNPLA6-
-
-
-
1Loss-
PNPLA7-
-
-
-
1Loss-
PNPT1-
-
-
-
3Gain-
POC1A-
-
-
-
1Loss-
PODNL1-
-
-
-
1Loss-
PODXL2-
-
-
-
3Gain-
POGLUT1-
-
-
-
3Gain-
POLB-
-
-
-
1Loss-
POLE3-
-
-
-
1Loss-
POLI-
-
-
-
1Loss-
POLQ-
-
-
-
3Gain-
POLR1E-
-
-
-
1Loss-
POLR2E-
-
-
-
1Loss-
POLR2H-
-
-
-
3Gain-
POLR2K-
-
-
-
3Gain-
POLR2L-
-
-
-
1Loss-
POLR2M-
-
-
-
1Loss-
POLR3D-
-
-
-
1Loss-
POLRMT-
-
-
-
1Loss-
POMC-
-
-
-
3Gain-
POMGNT2-
-
-
-
1Loss-
POMK-
-
-
-
1Loss-
POMT1-
-
-
-
1Loss-
POP1-
-
-
-
3Gain-
POPDC2-
-
-
-
3Gain-
POTEB-
-
-
-
1Loss-
POTEB2-
-
-
-
1Loss-
POTEB3-
-
-
-
1Loss-
POTEG-
-
-
-
1Loss-
POTEM-
-
-
-
1Loss-
POU1F1-
-
-
-
1Loss-
POU5F1B-
-
-
-
3Gain-
PP2D1-
-
-
-
1Loss-
PPAN-
-
-
-
1Loss-
PPAN-P2RY11-
-
-
-
1Loss-
PPARG-
-
-
-
1Loss-
PPCDC-
-
-
-
1Loss-
PPDPFL-
-
-
-
3Gain-
PPFIBP2-
-
-
-
1Loss-
PPIB-
-
-
-
1Loss-
PPIP5K1-
-
-
-
1Loss-
PPM1B-
-
-
-
3Gain-
PPM1G-
-
-
-
3Gain-
PPM1L-
-
-
-
3Gain-
PPM1M-
-
-
-
1Loss-
PPP1CB-
-
-
-
3Gain-
PPP1R14D-
-
-
-
1Loss-
PPP1R16A-
-
-
-
3Gain-
PPP1R2-
-
-
-
3Gain-
PPP1R21-
-
-
-
3Gain-
PPP1R26-
-
-
-
1Loss-
PPP1R3Bp.R125K
Missense
SNP
0.906
1Loss-
PPP1R3E-
-
-
-
1Loss-
PPP1R42-
-
-
-
3Gain-
PPP2CB-
-
-
-
1Loss-
PPP2R2A-
-
-
-
1Loss-
PPP2R3A-
-
-
-
3Gain-
PPP3CC-
-
-
-
1Loss-
PPP3R1-
-
-
-
3Gain-
PPP3R2-
-
-
-
1Loss-
PPP4R2-
-
-
-
1Loss-
PPP4R3B-
-
-
-
3Gain-
PPP6C-
-
-
-
1Loss-
PQLC1-
-
-
-
1Loss-
PQLC2L-
-
-
-
3Gain-
PQLC3-
-
-
-
3Gain-
PRAG1-
-
-
-
1Loss-
PRAM1-
-
-
-
1Loss-
PRAP1-
-
-
-
1Loss-
PRDM11-
-
-
-
1Loss-
PRDM12-
-
-
-
1Loss-
PRDM14-
-
-
-
3Gain-
PRDX2-
-
-
-
1Loss-
PREB-
-
-
-
3Gain-
PREPL-
-
-
-
3Gain-
PREX2-
-
-
-
3Gain-
PRICKLE2-
-
-
-
1Loss-
PRKACA-
-
-
-
1Loss-
PRKACG-
-
-
-
1Loss-
PRKAR2A-
-
-
-
1Loss-
PRKCD-
-
-
-
1Loss-
PRKCE-
-
-
-
3Gain-
PRKCI-
-
-
-
3Gain-
PRKCSH-
-
-
-
1Loss-
PRKD1-
-
-
-
1Loss-
PRKD3-
-
-
-
3Gain-
PRKDC-
-
-
-
3Gain-
PRKG1p.I127M
Missense
SNP
0.477
2--
PRMT3-
-
-
-
1Loss-
PRMT5-
-
-
-
1Loss-
PROK2-
-
-
-
1Loss-
PROKR1-
-
-
-
3Gain-
PROS1-
-
-
-
3Gain-
PRPF4-
-
-
-
1Loss-
PRR12p.G1344V
Missense
SNP
0.972
2-PRR12--DHDH
PRR22-
-
-
-
1Loss-
PRR23A-
-
-
-
3Gain-
PRR23B-
-
-
-
3Gain-
PRR23C-
-
-
-
3Gain-
PRR23D1-
-
-
-
1Loss-
PRR23D2-
-
-
-
1Loss-
PRR30-
-
-
-
3Gain-
PRR33-
-
-
-
1Loss-
PRR35p.P541L
Missense
SNP
0.531
2--
PRR36-
-
-
-
1Loss-
PRR5L-
-
-
-
1Loss-
PRRC2Bp.R163L
Missense
SNP
0.971
1Loss-
PRRG4-
-
-
-
1Loss-
PRRT1B-
-
-
-
1Loss-
PRRT3-
-
-
-
1Loss-
PRRX2-
-
-
-
1Loss-
PRSS3-
-
-
-
1Loss-
PRSS42-
-
-
-
1Loss-
PRSS45-
-
-
-
1Loss-
PRSS50-
-
-
-
1Loss-
PRSS55-
-
-
-
1Loss-
PRSS57-
-
-
-
1Loss-
PRTG-
-
-
-
1Loss-
PRTN3-
-
-
-
1Loss-
PRUNE2-
-
-
-
1Loss-
PRXL2C-
-
-
-
1Loss-
PSAP-
-
-
-
2-PSAP--RNA5-8SN2
PSAT1-
-
-
-
1Loss-
PSCA-
-
-
-
3Gain-
PSD3-
-
-
-
1Loss-
PSIP1-
-
-
-
1Loss-
PSKH2-
-
-
-
3Gain-
PSMA1-
-
-
-
1Loss-
PSMA8-
-
-
-
10Amp-
PSMB11-
-
-
-
1Loss-
PSMB5-
-
-
-
1Loss-
PSMB7-
-
-
-
1Loss-
PSMC3-
-
-
-
1Loss-
PSMD13-
-
-
-
1Loss-
PSMD2-
-
-
-
3Gain-
PSMD5-
-
-
-
1Loss-
PSMD6-
-
-
-
1Loss-
PSME1-
-
-
-
1Loss-
PSME2-
-
-
-
1Loss-
PSME4-
-
-
-
3Gain-
PSPC1-
-
-
-
3Gain-
PSPN-
-
-
-
1Loss-
PSTPIP2-
-
-
-
1Loss-
PTAR1-
-
-
-
1Loss-
PTBP1-
-
-
-
1Loss-
PTBP3-
-
-
-
1Loss-
PTCH1-
-
-
-
1Loss-
PTCHD1p.A651P
Missense
SNP
0.977
NDND-
PTDSS1-
-
-
-
3Gain-
PTDSS2-
-
-
-
1Loss-
PTGDS-
-
-
-
1Loss-
PTGER1-
-
-
-
1Loss-
PTGES-
-
-
-
1Loss-
PTGES2-
-
-
-
1Loss-
PTGR1-
-
-
-
1Loss-
PTGS1-
-
-
-
1Loss-
PTH-
-
-
-
1Loss-
PTH1R-
-
-
-
1Loss-
PTK2-
-
-
-
3Gain-
PTK2B-
-
-
-
1Loss-
PTK6p.S442F
Missense
SNP
0.434
2--
PTP4A3-
-
-
-
3Gain-
PTPA-
-
-
-
1Loss-
PTPDC1-
-
-
-
1Loss-
PTPMT1-
-
-
-
1Loss-
PTPN11-
-
-
-
1Loss-
PTPN23-
-
-
-
1Loss-
PTPN3-
-
-
-
1Loss-
PTPN5-
-
-
-
1Loss-
PTPN9-
-
-
-
1Loss-
PTPRD-
-
-
-
1Loss-
PTPRG-
-
-
-
1Loss-
PTPRJ-
-
-
-
1Loss-
PTPRQp.I1198S
Missense
SNP
0.405
2--
PTPRRp.E354K
Missense
SNP
0.556
2--
PTPRS-
-
-
-
1Loss-
PTRH1-
-
-
-
1Loss-
PTRHD1-
-
-
-
3Gain-
PTX3-
-
-
-
3Gain-
PUF60-
-
-
-
3Gain-
PUM2-
-
-
-
3Gain-
PUM3-
-
-
-
1Loss-
PURG-
-
-
-
1Loss-
PUS10-
-
-
-
3Gain-
PUS3p.S142Y
Missense
SNP
0.490
2--
PVRp.Y398C
Missense
SNP
0.965
2--
PXDN-
-
-
-
3Gain-
PXDNL-
-
-
-
3Gain-
PXK-
-
-
-
1Loss-
PXYLP1-
-
-
-
3Gain-
PYCR3-
-
-
-
3Gain-
PYDC2-
-
-
-
3Gain-
PYGO1-
-
-
-
1Loss-
QARS-
-
-
-
1Loss-
QPCT-
-
-
-
3Gain-
QRFP-
-
-
-
1Loss-
QRICH1-
-
-
-
1Loss-
QSER1-
-
-
-
1Loss-
QSOX2-
-
-
-
1Loss-
QTRT1-
-
-
-
1Loss-
QTRT2-
-
-
-
3Gain-
R3HCC1-
-
-
-
1Loss-
R3HDM4-
-
-
-
1Loss-
RAB10-
-
-
-
3Gain-
RAB11A-
-
-
-
1Loss-
RAB11B-
-
-
-
1Loss-
RAB11FIP1-
-
-
-
1Loss-
RAB14-
-
-
-
1Loss-
RAB1A-
-
-
-
3Gain-
RAB27A-
-
-
-
1Loss-
RAB27B-
-
-
-
1Loss-
RAB2A-
-
-
-
3Gain-
RAB2B-
-
-
-
1Loss-
RAB3A-
-
-
-
1Loss-
RAB3D-
-
-
-
1Loss-
RAB43-
-
-
-
3Gain-
RAB5A-
-
-
-
1Loss-
RAB6B-
-
-
-
3Gain-
RAB7A-
-
-
-
3Gain-
RAB8A-
-
-
-
1Loss-
RAB8B-
-
-
-
1Loss-
RABEPK-
-
-
-
1Loss-
RABGAP1-
-
-
-
1Loss-
RABGGTA-
-
-
-
1Loss-
RABL3-
-
-
-
3Gain-
RABL6-
-
-
-
1Loss-
RAD18-
-
-
-
1Loss-
RAD21-
-
-
-
3Gain-
RAD23A-
-
-
-
1Loss-
RAD23B-
-
-
-
1Loss-
RAD51-
-
-
-
1Loss-
RAD51AP2-
-
-
-
3Gain-
RAD54B-
-
-
-
3Gain-
RAD54L2-
-
-
-
1Loss-
RAF1-
-
-
-
1Loss-
RAG1-
-
-
-
1Loss-
RAG2-
-
-
-
1Loss-
RALGDS-
-
-
-
1Loss-
RALGPS1-
-
-
-
1Loss-
RALYL-
-
-
-
3Gain-
RANBP3-
-
-
-
1Loss-
RANBP6-
-
-
-
1Loss-
RAP2B-
-
-
-
3Gain-
RAPGEF1-
-
-
-
1Loss-
RAPSN-
-
-
-
1Loss-
RARB-
-
-
-
1Loss-
RARRES1-
-
-
-
3Gain-
RASA2-
-
-
-
3Gain-
RASAL3-
-
-
-
1Loss-
RASEF-
-
-
-
1Loss-
RASGRP1-
-
-
-
1Loss-
RASGRP3-
-
-
-
3Gain-
RASL12-
-
-
-
1Loss-
RASSF1-
-
-
-
1Loss-
RASSF10-
-
-
-
1Loss-
RASSF7-
-
-
-
1Loss-
RAVER1-
-
-
-
1Loss-
RAX-
-
-
-
1Loss-
RAX2-
-
-
-
1Loss-
RB1CC1-
-
-
-
3Gain-
RBFA-
-
-
-
1Loss-
RBKS-
-
-
-
3Gain-
RBL1p.K429T
Missense
SNP
0.449
2--
RBL2p.T541I
Missense
SNP
0.475
2--
RBM12B-
-
-
-
3Gain-
RBM15B-
-
-
-
1Loss-
RBM18-
-
-
-
1Loss-
RBM23-
-
-
-
1Loss-
RBM5-
-
-
-
1Loss-
RBM6-
-
-
-
1Loss-
RBMS3-
-
-
-
1Loss-
RBMXL2-
-
-
-
1Loss-
RBP1-
-
-
-
3Gain-
RBP2-
-
-
-
3Gain-
RBPMS-
-
-
-
1Loss-
RBPMS2-
-
-
-
1Loss-
RBSN-
-
-
-
1Loss-
RC3H2-
-
-
-
1Loss-
RCL1-
-
-
-
1Loss-
RCN1-
-
-
-
1Loss-
RDH10-
-
-
-
3Gain-
RDH14-
-
-
-
3Gain-
RDH8-
-
-
-
1Loss-
REC114-
-
-
-
1Loss-
REC8-
-
-
-
1Loss-
RECK-
-
-
-
1Loss-
RECQLp.E205*
Nonsense
SNP
0.438
2--
RECQL4-
-
-
-
3Gain-
REEP4-
-
-
-
1Loss-
REEP6-
-
-
-
1Loss-
REG1Bp.P37Q
Missense
SNP
0.442
2--
REG3Gp.X111_splice
Splice_Site
SNP
0.378
2--
REG4p.R88*
Nonsense
SNP
0.459
2--
REL-
-
-
-
3Gain-
RELBp.A495P
Missense
SNP
0.971
2--
RELCH-
-
-
-
1Loss-
REM2-
-
-
-
1Loss-
RETN-
-
-
-
1Loss-
RETNLB-
-
-
-
3Gain-
REX1BD-
-
-
-
1Loss-
REXO1-
-
-
-
1Loss-
REXO4-
-
-
-
1Loss-
RFC4-
-
-
-
3Gain-
RFK-
-
-
-
1Loss-
RFT1-
-
-
-
1Loss-
RFTN1-
-
-
-
1Loss-
RFX1-
-
-
-
1Loss-
RFX2-
-
-
-
1Loss-
RFX3-
-
-
-
1Loss-
RFX7-
-
-
-
1Loss-
RFXANK-
-
-
-
1Loss-
RGL3-
-
-
-
1Loss-
RGP1-
-
-
-
1Loss-
RGS20-
-
-
-
3Gain-
RGS22-
-
-
-
3Gain-
RGS3-
-
-
-
1Loss-
RHO-
-
-
-
3Gain-
RHOA-
-
-
-
1Loss-
RHOB-
-
-
-
3Gain-
RHOBTB2-
-
-
-
1Loss-
RHOG-
-
-
-
1Loss-
RHOQ-
-
-
-
3Gain-
RHOV-
-
-
-
1Loss-
RHPN1-
-
-
-
3Gain-
RHPN2p.Q378*
Nonsense
SNP
0.092
2--
RIC1-
-
-
-
1Loss-
RIC3-
-
-
-
1Loss-
RIC8A-
-
-
-
1Loss-
RIDA-
-
-
-
3Gain-
RIMS2-
-
-
-
3Gain-
RIOX2-
-
-
-
3Gain-
RIPK2-
-
-
-
3Gain-
RIPK3-
-
-
-
1Loss-
RIT2-
-
-
-
1Loss-
RLN1-
-
-
-
1Loss-
RLN2-
-
-
-
1Loss-
RLN3-
-
-
-
1Loss-
RMDN1-
-
-
-
3Gain-
RMDN2-
-
-
-
3Gain-
RMDN3-
-
-
-
1Loss-
RMI1-
-
-
-
1Loss-
RNA5-8SN2-
-
-
-
NDNDRNA5-8SN2--VPS36
MALAT1--RNA5-8SN2
PSAP--RNA5-8SN2
ASH1L--RNA5-8SN2
RNASE1-
-
-
-
1Loss-
RNASE10-
-
-
-
1Loss-
RNASE11-
-
-
-
1Loss-
RNASE12-
-
-
-
1Loss-
RNASE13-
-
-
-
1Loss-
RNASE2-
-
-
-
1Loss-
RNASE3-
-
-
-
1Loss-
RNASE4-
-
-
-
1Loss-
RNASE6-
-
-
-
1Loss-
RNASE7-
-
-
-
1Loss-
RNASE8-
-
-
-
1Loss-
RNASE9-
-
-
-
1Loss-
RNASEH1-
-
-
-
3Gain-
RNASEH2A-
-
-
-
1Loss-
RNF111-
-
-
-
1Loss-
RNF122-
-
-
-
1Loss-
RNF123-
-
-
-
1Loss-
RNF125-
-
-
-
13Amp-
RNF126-
-
-
-
1Loss-
RNF13-
-
-
-
3Gain-
RNF138-
-
-
-
13Amp-
RNF139-
-
-
-
3Gain-
RNF141-
-
-
-
1Loss-
RNF144A-
-
-
-
3Gain-
RNF152-
-
-
-
1Loss-
RNF165-
-
-
-
1Loss-
RNF168-
-
-
-
3Gain-
RNF170-
-
-
-
1Loss-
RNF183-
-
-
-
1Loss-
RNF19A-
-
-
-
3Gain-
RNF20-
-
-
-
1Loss-
RNF208-
-
-
-
1Loss-
RNF212B-
-
-
-
1Loss-
RNF224-
-
-
-
1Loss-
RNF31-
-
-
-
1Loss-
RNF38-
-
-
-
1Loss-
RNF7-
-
-
-
3Gain-
RNH1-
-
-
-
1Loss-
ROBO1-
-
-
-
1Loss-
ROBO2-
-
-
-
1Loss-
ROCK1p.G88V
Missense
SNP
0.453
2--
ROCK2-
-
-
-
3Gain-
ROPN1-
-
-
-
3Gain-
ROPN1B-
-
-
-
3Gain-
ROR2-
-
-
-
1Loss-
RORA-
-
-
-
1Loss-
RORB-
-
-
-
1Loss-
RP1p.A218P
Missense
SNP
0.376
3Gain-
RP1L1-
-
-
-
1Loss-
RP9p.K210R
Missense
SNP
0.062
2--
RPAP1-
-
-
-
1Loss-
RPGRIP1-
-
-
-
1Loss-
RPL10Lp.S168P
Missense
SNP
0.527
2--
RPL12-
-
-
-
1Loss-
RPL14-
-
-
-
1Loss-
RPL15-
-
-
-
1Loss-
RPL17-
-
-
-
1Loss-
RPL17-C18orf32-
-
-
-
1Loss-
RPL18A-
-
-
-
1Loss-
RPL22L1-
-
-
-
3Gain-
RPL24-
-
-
-
3Gain-
RPL27A-
-
-
-
1Loss-
RPL29-
-
-
-
1Loss-
RPL30-
-
-
-
3Gain-
RPL32-
-
-
-
1Loss-
RPL35-
-
-
-
1Loss-
RPL35A-
-
-
-
3Gain-
RPL39L-
-
-
-
3Gain-
RPL4-
-
-
-
1Loss-
RPL6-
-
-
-
1Loss-
RPL7-
-
-
-
3Gain-
RPL7A-
-
-
-
1Loss-
RPL8-
-
-
-
3Gain-
RPLP1-
-
-
-
1Loss-
RPLP2-
-
-
-
1Loss-
RPN1-
-
-
-
3Gain-
RPP14-
-
-
-
1Loss-
RPP25-
-
-
-
1Loss-
RPP25L-
-
-
-
1Loss-
RPRD1A-
-
-
-
1Loss-
RPS13-
-
-
-
1Loss-
RPS15-
-
-
-
1Loss-
RPS20-
-
-
-
3Gain-
RPS27A-
-
-
-
3Gain-
RPS27L-
-
-
-
1Loss-
RPS28-
-
-
-
1Loss-
RPS6-
-
-
-
1Loss-
RPS6KC1p.C968Y
Missense
SNP
0.417
2--
RPS7-
-
-
-
3Gain-
RPSA-
-
-
-
1Loss-
RPTN-
-
-
-
3Gain-
RPUSD2-
-
-
-
1Loss-
RPUSD3-
-
-
-
1Loss-
RRAGA-
-
-
-
1Loss-
RRAS2-
-
-
-
1Loss-
RRM1-
-
-
-
1Loss-
RRM2-
-
-
-
3Gain-
RRM2B-
-
-
-
3Gain-
RRP8-
-
-
-
1Loss-
RRP9-
-
-
-
1Loss-
RRS1-
-
-
-
3Gain-
RSAD2-
-
-
-
3Gain-
RSBN1p.E277D
Missense
SNP
0.470
2--
RSL24D1-
-
-
-
1Loss-
RSPO2-
-
-
-
3Gain-
RSRC1-
-
-
-
3Gain-
RTBDN-
-
-
-
1Loss-
RTF1-
-
-
-
1Loss-
RTN4-
-
-
-
3Gain-
RTP1-
-
-
-
3Gain-
RTP2-
-
-
-
3Gain-
RTP3-
-
-
-
1Loss-
RTP4-
-
-
-
3Gain-
RTTN-
-
-
-
1Loss-
RUBCN-
-
-
-
3Gain-
RUNDC3Bp.S395*
Nonsense
SNP
0.392
2--
RUNX1T1-
-
-
-
3Gain-
RUSC2-
-
-
-
1Loss-
RUVBL1-
-
-
-
3Gain-
RXRA-
-
-
-
1Loss-
RYBP-
-
-
-
1Loss-
RYK-
-
-
-
3Gain-
RYR2p.X2147_splice
p.S2457F
Splice_Site
Missense
SNP
SNP
0.487
0.514
2--
RYR3-
-
-
-
1Loss-
S1PR2-
-
-
-
1Loss-
S1PR3-
-
-
-
1Loss-
S1PR4-
-
-
-
1Loss-
S1PR5-
-
-
-
1Loss-
SAA1-
-
-
-
1Loss-
SAA2-
-
-
-
1Loss-
SAA2-SAA4-
-
-
-
1Loss-
SAA4-
-
-
-
1Loss-
SAAL1-
-
-
-
1Loss-
SACM1L-
-
-
-
1Loss-
SACSp.L1732V
Missense
SNP
0.935
2--
SAFB-
-
-
-
1Loss-
SAFB2-
-
-
-
1Loss-
SALL2-
-
-
-
1Loss-
SALL3p.A620T
Missense
SNP
0.833
1Loss-
SAMD1-
-
-
-
1Loss-
SAMD12-
-
-
-
3Gain-
SAMD7-
-
-
-
3Gain-
SAPCD2-
-
-
-
1Loss-
SARAF-
-
-
-
1Loss-
SARDH-
-
-
-
1Loss-
SATB1-
-
-
-
1Loss-
SAXO1-
-
-
-
1Loss-
SBF2-
-
-
-
1Loss-
SBNO2-
-
-
-
1Loss-
SBSNp.T285A
Missense
SNP
0.533
2--
SBSPON-
-
-
-
3Gain-
SCAI-
-
-
-
1Loss-
SCAMP2-
-
-
-
1Loss-
SCAMP4-
-
-
-
1Loss-
SCAMP5-
-
-
-
1Loss-
SCAP-
-
-
-
1Loss-
SCARA3-
-
-
-
1Loss-
SCARA5-
-
-
-
1Loss-
SCART1-
-
-
-
1Loss-
SCFD1-
-
-
-
1Loss-
SCG3-
-
-
-
1Loss-
SCG5-
-
-
-
1Loss-
SCGB1C1-
-
-
-
1Loss-
SCHIP1-
-
-
-
3Gain-
SCN10A-
-
-
-
1Loss-
SCN11A-
-
-
-
1Loss-
SCN2Ap.A647T
Missense
SNP
0.452
2--
SCN3Ap.G564D
Missense
SNP
0.476
2--
SCN4Ap.L707V
Missense
SNP
0.456
2--
SCN5A-
-
-
-
1Loss-
SCRIBp.C1189F
Missense
SNP
0.300
3Gain-
SCRT1p.A192G
Missense
SNP
0.212
3Gain-
SCT-
-
-
-
1Loss-
SCUBE2-
-
-
-
1Loss-
SCX-
-
-
-
3Gain-
SDC1-
-
-
-
3Gain-
SDC2-
-
-
-
3Gain-
SDCBP-
-
-
-
3Gain-
SDR16C5-
-
-
-
3Gain-
SDR39U1-
-
-
-
1Loss-
SEC11C-
-
-
-
1Loss-
SEC13-
-
-
-
1Loss-
SEC16A-
-
-
-
1Loss-
SEC22A-
-
-
-
3Gain-
SEC22C-
-
-
-
1Loss-
SEC23Bp.A667S
Missense
SNP
0.460
2--
SEC61A1-
-
-
-
3Gain-
SEC61B-
-
-
-
1Loss-
SEC62-
-
-
-
3Gain-
SECISBP2-
-
-
-
1Loss-
SECISBP2L-
-
-
-
1Loss-
SELENOI-
-
-
-
3Gain-
SELENOK-
-
-
-
1Loss-
SELENOT-
-
-
-
3Gain-
SEMA3B-
-
-
-
1Loss-
SEMA3F-
-
-
-
1Loss-
SEMA3G-
-
-
-
1Loss-
SEMA4D-
-
-
-
1Loss-
SEMA5B-
-
-
-
3Gain-
SEMA6B-
-
-
-
1Loss-
SEMA6D-
-
-
-
1Loss-
SEMA7A-
-
-
-
1Loss-
SENP2-
-
-
-
3Gain-
SENP5-
-
-
-
3Gain-
SENP7-
-
-
-
3Gain-
SENP8-
-
-
-
1Loss-
SERF2-
-
-
-
1Loss-
SERGEF-
-
-
-
1Loss-
SERINC4-
-
-
-
1Loss-
SERP1-
-
-
-
3Gain-
SERPINA9p.G399C
Missense
SNP
0.517
2--
SERPINB10-
-
-
-
1Loss-
SERPINB11-
-
-
-
1Loss-
SERPINB12-
-
-
-
1Loss-
SERPINB13-
-
-
-
1Loss-
SERPINB2p.N120D
Missense
SNP
0.066
1Loss-
SERPINB3-
-
-
-
1Loss-
SERPINB4-
-
-
-
1Loss-
SERPINB5-
-
-
-
1Loss-
SERPINB7-
-
-
-
1Loss-
SERPINB8-
-
-
-
1Loss-
SERPINI1-
-
-
-
3Gain-
SERPINI2-
-
-
-
3Gain-
SERTAD2-
-
-
-
3Gain-
SET-
-
-
-
1Loss-
SETBP1-
-
-
-
1Loss-
SETD2-
-
-
-
1Loss-
SETD5-
-
-
-
1Loss-
SETMAR-
-
-
-
1Loss-
SETX-
-
-
-
1Loss-
SF3A2-
-
-
-
1Loss-
SF3B1p.Q382*
Nonsense
SNP
0.493
2--
SF3B6-
-
-
-
3Gain-
SFMBT1-
-
-
-
1Loss-
SFRP1-
-
-
-
1Loss-
SFTPC-
-
-
-
1Loss-
SGCDp.E218V
Missense
SNP
0.444
2--
SGCZ-
-
-
-
1Loss-
SGK223p.S15F
Missense
SNP
0.900
NDND-
SGK3-
-
-
-
3Gain-
SGO1-
-
-
-
1Loss-
SGO2-
-
-
-
3Gain-
SGTA-
-
-
-
1Loss-
SH2D3A-
-
-
-
1Loss-
SH2D3C-
-
-
-
1Loss-
SH2D4A-
-
-
-
1Loss-
SH3BGRL3p.L4V
Missense
SNP
0.558
2--
SH3BP5-
-
-
-
1Loss-
SH3GL1-
-
-
-
1Loss-
SH3GL2-
-
-
-
1Loss-
SH3GLB2-
-
-
-
1Loss-
SH3YL1-
-
-
-
3Gain-
SHANK2p.P992L
Missense
SNP
0.659
2--
SHARPIN-
-
-
-
3Gain-
SHB-
-
-
-
1Loss-
SHC2-
-
-
-
1Loss-
SHC3-
-
-
-
1Loss-
SHC4-
-
-
-
1Loss-
SHD-
-
-
-
1Loss-
SHF-
-
-
-
1Loss-
SHFM1p.E40*
Nonsense
SNP
0.459
NDND-
SHISA3p.W13R
Missense
SNP
0.982
2--
SHISA5-
-
-
-
1Loss-
SHOX2-
-
-
-
3Gain-
SHQ1p.A454S;p.E453D
Missense
MNP
0.864
1Loss-
SIp.K5I
Missense
SNP
0.288
3Gain-
SIAH2-
-
-
-
3Gain-
SIDT1-
-
-
-
3Gain-
SIGIRR-
-
-
-
1Loss-
SIGLEC15-
-
-
-
1Loss-
SIGMAR1-
-
-
-
1Loss-
SIK1B-
-
-
-
1Loss-
SIN3A-
-
-
-
1Loss-
SIN3B-
-
-
-
1Loss-
SIRT3-
-
-
-
1Loss-
SIRT6-
-
-
-
1Loss-
SIT1-
-
-
-
1Loss-
SIX2-
-
-
-
3Gain-
SIX3-
-
-
-
3Gain-
SKA1-
-
-
-
1Loss-
SKIL-
-
-
-
3Gain-
SKOR1-
-
-
-
1Loss-
SKOR2-
-
-
-
1Loss-
SLA-
-
-
-
3Gain-
SLC10A2p.T110N
Missense
SNP
0.979
2--
SLC10A5-
-
-
-
3Gain-
SLC12A1-
-
-
-
1Loss-
SLC12A6-
-
-
-
1Loss-
SLC12A8-
-
-
-
3Gain-
SLC14A1-
-
-
-
1Loss-
SLC14A2-
-
-
-
1Loss-
SLC15A2-
-
-
-
3Gain-
SLC17A6-
-
-
-
1Loss-
SLC18A1-
-
-
-
1Loss-
SLC1A1-
-
-
-
1Loss-
SLC1A2-
-
-
-
1Loss-
SLC1A4p.L126Q
Missense
SNP
0.276
3Gain-
SLC1A6-
-
-
-
1Loss-
SLC20A2-
-
-
-
1Loss-
SLC22A13-
-
-
-
1Loss-
SLC22A14-
-
-
-
1Loss-
SLC22A17-
-
-
-
1Loss-
SLC22A18-
-
-
-
1Loss-
SLC22A18AS-
-
-
-
1Loss-
SLC24A1-
-
-
-
1Loss-
SLC24A2-
-
-
-
1Loss-
SLC24A5-
-
-
-
1Loss-
SLC25A20-
-
-
-
1Loss-
SLC25A22-
-
-
-
1Loss-
SLC25A23-
-
-
-
1Loss-
SLC25A25-
-
-
-
1Loss-
SLC25A26-
-
-
-
1Loss-
SLC25A32-
-
-
-
3Gain-
SLC25A36-
-
-
-
3Gain-
SLC25A37-
-
-
-
1Loss-
SLC25A38-
-
-
-
1Loss-
SLC25A41-
-
-
-
1Loss-
SLC25A42-
-
-
-
1Loss-
SLC25A47p.T116N
Missense
SNP
0.488
2--
SLC25A51-
-
-
-
1Loss-
SLC25A52-
-
-
-
13Amp-
SLC26A10-
-
-
-
3Gain-
SLC26A6-
-
-
-
1Loss-
SLC26A7-
-
-
-
3Gain-
SLC27A1-
-
-
-
1Loss-
SLC27A2-
-
-
-
1Loss-
SLC27A4-
-
-
-
1Loss-
SLC27A6p.G105V
Missense
SNP
0.442
2--
SLC28A2-
-
-
-
1Loss-
SLC28A3-
-
-
-
1Loss-
SLC2A2-
-
-
-
3Gain-
SLC2A6-
-
-
-
1Loss-
SLC2A8-
-
-
-
1Loss-
SLC30A3-
-
-
-
3Gain-
SLC30A4-
-
-
-
1Loss-
SLC30A6-
-
-
-
3Gain-
SLC30A8-
-
-
-
3Gain-
SLC31A1-
-
-
-
1Loss-
SLC31A2-
-
-
-
1Loss-
SLC33A1-
-
-
-
3Gain-
SLC34A3-
-
-
-
1Loss-
SLC35A5-
-
-
-
3Gain-
SLC35C1-
-
-
-
1Loss-
SLC35D2-
-
-
-
1Loss-
SLC35E1-
-
-
-
1Loss-
SLC35F6-
-
-
-
3Gain-
SLC35G2-
-
-
-
3Gain-
SLC35G5-
-
-
-
1Loss-
SLC38A3-
-
-
-
1Loss-
SLC39A13-
-
-
-
1Loss-
SLC39A14-
-
-
-
1Loss-
SLC39A2-
-
-
-
1Loss-
SLC39A3-
-
-
-
1Loss-
SLC39A4-
-
-
-
3Gain-
SLC39A6-
-
-
-
1Loss-
SLC3A1-
-
-
-
3Gain-
SLC41A3-
-
-
-
3Gain-
SLC44A1-
-
-
-
1Loss-
SLC44A2-
-
-
-
1Loss-
SLC45A4-
-
-
-
3Gain-
SLC46A2-
-
-
-
1Loss-
SLC4A1AP-
-
-
-
3Gain-
SLC4A7-
-
-
-
1Loss-
SLC4A8p.R876P
Missense
SNP
0.461
2--
SLC51A-
-
-
-
3Gain-
SLC51B-
-
-
-
1Loss-
SLC52A2-
-
-
-
3Gain-
SLC5A12-
-
-
-
1Loss-
SLC5A5-
-
-
-
1Loss-
SLC5A6-
-
-
-
3Gain-
SLC6A1-
-
-
-
1Loss-
SLC6A11-
-
-
-
1Loss-
SLC6A20-
-
-
-
1Loss-
SLC6A5-
-
-
-
1Loss-
SLC6A6-
-
-
-
1Loss-
SLC7A13-
-
-
-
3Gain-
SLC7A14-
-
-
-
3Gain-
SLC7A2-
-
-
-
1Loss-
SLC7A7-
-
-
-
1Loss-
SLC7A8-
-
-
-
1Loss-
SLC8A1-
-
-
-
3Gain-
SLC9A9-
-
-
-
3Gain-
SLC9C1-
-
-
-
3Gain-
SLCO2A1-
-
-
-
3Gain-
SLCO5A1-
-
-
-
3Gain-
SLF1-
-
-
-
1Loss-
SLIT2p.C954S
Missense
SNP
0.989
2--
SLITRK2p.D142Y
Missense
SNP
0.911
NDND-
SLITRK3-
-
-
-
3Gain-
SLMAP-
-
-
-
1Loss-
SLTM-
-
-
-
1Loss-
SLURP1-
-
-
-
3Gain-
SLURP2-
-
-
-
3Gain-
SLX4p.A1727T
Missense
SNP
0.471
2--
SMAD2-
-
-
-
1Loss-
SMAD3-
-
-
-
1Loss-
SMAD4-
-
-
-
1Loss-
SMAD6-
-
-
-
1Loss-
SMAD7-
-
-
-
1Loss-
SMARCA2-
-
-
-
1Loss-
SMARCA4-
-
-
-
1Loss-
SMARCC1-
-
-
-
1Loss-
SMC2-
-
-
-
1Loss-
SMC4-
-
-
-
3Gain-
SMC5-
-
-
-
1Loss-
SMC6-
-
-
-
3Gain-
SMCO1-
-
-
-
3Gain-
SMCR8p.S691F
Missense
SNP
0.350
2--
SMIM11B-
-
-
-
1Loss-
SMIM18-
-
-
-
1Loss-
SMIM19-
-
-
-
1Loss-
SMIM21-
-
-
-
1Loss-
SMIM24-
-
-
-
1Loss-
SMIM27-
-
-
-
1Loss-
SMIM34B-
-
-
-
1Loss-
SMIM4-
-
-
-
1Loss-
SMIM7-
-
-
-
1Loss-
SMPD1-
-
-
-
1Loss-
SMPD3p.K103*
Nonsense
SNP
0.476
2--
SMU1-
-
-
-
1Loss-
SMYD4p.V405F
Missense
SNP
0.431
2--
SNAI2-
-
-
-
3Gain-
SNAP23-
-
-
-
1Loss-
SNAPC2-
-
-
-
1Loss-
SNAPC3-
-
-
-
1Loss-
SNAPC4-
-
-
-
1Loss-
SNAPC5-
-
-
-
1Loss-
SNRK-
-
-
-
1Loss-
SNRNP27-
-
-
-
3Gain-
SNRPG-
-
-
-
3Gain-
SNRPN-
-
-
-
1Loss-
SNTB1-
-
-
-
3Gain-
SNTG1-
-
-
-
3Gain-
SNTG2-
-
-
-
3Gain-
SNTN-
-
-
-
1Loss-
SNUPN-
-
-
-
1Loss-
SNURF-
-
-
-
1Loss-
SNX1-
-
-
-
1Loss-
SNX16-
-
-
-
3Gain-
SNX17-
-
-
-
3Gain-
SNX22-
-
-
-
1Loss-
SNX30-
-
-
-
1Loss-
SNX31-
-
-
-
3Gain-
SNX33-
-
-
-
1Loss-
SNX4-
-
-
-
3Gain-
SNX6-
-
-
-
1Loss-
SOBPp.P631L
Missense
SNP
0.533
2--
SOCS5-
-
-
-
3Gain-
SOCS6-
-
-
-
1Loss-
SOHLH1-
-
-
-
1Loss-
SORBS3-
-
-
-
1Loss-
SORD-
-
-
-
1Loss-
SOS1-
-
-
-
3Gain-
SOX11-
-
-
-
3Gain-
SOX14-
-
-
-
3Gain-
SOX17p.M101I
Missense
SNP
0.270
3Gain-
SOX2-
-
-
-
3Gain-
SOX6-
-
-
-
1Loss-
SOX7-
-
-
-
1Loss-
SPAAR-
-
-
-
1Loss-
SPACA9-
-
-
-
1Loss-
SPAG1-
-
-
-
3Gain-
SPAG11A-
-
-
-
1Loss-
SPAG11B-
-
-
-
1Loss-
SPAG8-
-
-
-
1Loss-
SPAST-
-
-
-
3Gain-
SPATA12-
-
-
-
1Loss-
SPATA16-
-
-
-
3Gain-
SPATA24p.G6V
Missense
SNP
0.419
2--
SPATA31A1-
-
-
-
1Loss-
SPATA31A3-
-
-
-
1Loss-
SPATA31A5-
-
-
-
1Loss-
SPATA31A7-
-
-
-
1Loss-
SPATA31D1-
-
-
-
1Loss-
SPATA31D3-
-
-
-
1Loss-
SPATA31D4-
-
-
-
1Loss-
SPATA31E1-
-
-
-
1Loss-
SPATA45p.Q40E
Missense
SNP
0.444
2--
SPATA5L1-
-
-
-
1Loss-
SPATA6L-
-
-
-
1Loss-
SPATC1-
-
-
-
3Gain-
SPATS2L-
-
-
-
3Gain-
SPC24-
-
-
-
1Loss-
SPCS1-
-
-
-
1Loss-
SPDYA-
-
-
-
3Gain-
SPESP1-
-
-
-
1Loss-
SPG11-
-
-
-
1Loss-
SPG21-
-
-
-
1Loss-
SPI1-
-
-
-
1Loss-
SPIBp.W11R
Missense
SNP
0.932
2--
SPICE1p.Q636E
Missense
SNP
0.259
3Gain-
SPIDR-
-
-
-
3Gain-
SPIN1-
-
-
-
1Loss-
SPINK4-
-
-
-
1Loss-
SPINK8-
-
-
-
1Loss-
SPINT1-
-
-
-
1Loss-
SPON1-
-
-
-
1Loss-
SPOUT1-
-
-
-
1Loss-
SPPL2A-
-
-
-
1Loss-
SPPL2B-
-
-
-
1Loss-
SPRED1-
-
-
-
1Loss-
SPRED2-
-
-
-
3Gain-
SPRN-
-
-
-
1Loss-
SPRTNp.P296L
Missense
SNP
0.061
2--
SPSB4-
-
-
-
3Gain-
SPTAN1-
-
-
-
1Loss-
SPTBN1-
-
-
-
3Gain-
SPTBN5-
-
-
-
1Loss-
SPTLC1-
-
-
-
1Loss-
SPTSSA-
-
-
-
1Loss-
SPTSSB-
-
-
-
3Gain-
SPTY2D1-
-
-
-
1Loss-
SQLE-
-
-
-
3Gain-
SQOR-
-
-
-
1Loss-
SRBD1p.G764V
Missense
SNP
0.606
3Gain-
SRD5A2-
-
-
-
3Gain-
SRGAP3-
-
-
-
1Loss-
SRP14-
-
-
-
1Loss-
SRPRB-
-
-
-
3Gain-
SRRM2p.Q1575H
Missense
SNP
0.489
2--
SRSF4p.G284W
Missense
SNP
0.447
2--
SRSF7-
-
-
-
3Gain-
SS18-
-
-
-
10Amp-
SS18L2-
-
-
-
1Loss-
SSBP4-
-
-
-
1Loss-
SSNA1-
-
-
-
1Loss-
SSR3-
-
-
-
3Gain-
SST-
-
-
-
3Gain-
SSU72P2-
-
-
-
1Loss-
SSUH2-
-
-
-
1Loss-
ST18p.A440E
Missense
SNP
0.263
3Gain-
ST3GAL1-
-
-
-
3Gain-
ST3GAL6-
-
-
-
3Gain-
ST5-
-
-
-
1Loss-
ST6GAL1-
-
-
-
3Gain-
ST6GALNAC3p.D197H
Missense
SNP
0.356
2--
ST6GALNAC4-
-
-
-
1Loss-
ST6GALNAC6-
-
-
-
1Loss-
ST8SIA3-
-
-
-
1Loss-
ST8SIA5-
-
-
-
1Loss-
STAB1-
-
-
-
1Loss-
STAC-
-
-
-
1Loss-
STAG1-
-
-
-
3Gain-
STAP2-
-
-
-
1Loss-
STAR-
-
-
-
1Loss-
STARD6-
-
-
-
1Loss-
STARD9-
-
-
-
1Loss-
STAU2p.A111V
Missense
SNP
0.090
3Gain-
STC1-
-
-
-
1Loss-
STIM1-
-
-
-
1Loss-
STIM2p.F749L
Missense
SNP
0.957
2--
STIMATE-
-
-
-
1Loss-
STK11-
-
-
-
1Loss-
STK3-
-
-
-
3Gain-
STK33-
-
-
-
1Loss-
STKLD1-
-
-
-
1Loss-
STMN2-
-
-
-
3Gain-
STMN4-
-
-
-
1Loss-
STOM-
-
-
-
1Loss-
STOML1-
-
-
-
1Loss-
STOML2-
-
-
-
1Loss-
STON1-
-
-
-
3Gain-
STON1-GTF2A1L-
-
-
-
3Gain-
STPG3-
-
-
-
1Loss-
STPG4-
-
-
-
3Gain-
STRA6-
-
-
-
1Loss-
STRBP-
-
-
-
1Loss-
STRC-
-
-
-
0Del-
STRN-
-
-
-
3Gain-
STRN3-
-
-
-
1Loss-
STT3B-
-
-
-
1Loss-
STX10-
-
-
-
1Loss-
STX17-
-
-
-
1Loss-
STX19-
-
-
-
3Gain-
STXBP1-
-
-
-
1Loss-
STXBP2-
-
-
-
1Loss-
STXBP5Lp.W781L
Missense
SNP
0.331
3Gain-
STXBP6-
-
-
-
1Loss-
SUCLG2-
-
-
-
1Loss-
SUCNR1-
-
-
-
3Gain-
SUCOp.Q31K
Missense
SNP
0.457
2--
SUGCTp.H397N
Missense
SNP
0.453
2--
SUGP1-
-
-
-
1Loss-
SUGP2-
-
-
-
1Loss-
SULF1-
-
-
-
3Gain-
SULT6B1-
-
-
-
3Gain-
SUMF1-
-
-
-
1Loss-
SUPT16H-
-
-
-
1Loss-
SUPT7L-
-
-
-
3Gain-
SURF1-
-
-
-
1Loss-
SURF2-
-
-
-
1Loss-
SURF4-
-
-
-
1Loss-
SURF6-
-
-
-
1Loss-
SUSD1-
-
-
-
1Loss-
SUSD3-
-
-
-
1Loss-
SUSD5-
-
-
-
1Loss-
SVEP1p.V15D
Missense
SNP
0.928
1Loss-
SVIP-
-
-
-
1Loss-
SWAP70-
-
-
-
1Loss-
SWI5-
-
-
-
1Loss-
SWSAP1-
-
-
-
1Loss-
SYBU-
-
-
-
3Gain-
SYCE1-
-
-
-
1Loss-
SYCE2-
-
-
-
1Loss-
SYCP1p.A747E
Missense
SNP
0.534
2--
SYDE1-
-
-
-
1Loss-
SYK-
-
-
-
1Loss-
SYN2-
-
-
-
1Loss-
SYNE1p.E487*
Nonsense
SNP
0.660
2--
SYNPR-
-
-
-
1Loss-
SYT13-
-
-
-
1Loss-
SYT4-
-
-
-
1Loss-
SYT8-
-
-
-
1Loss-
SYT9-
-
-
-
1Loss-
TACC1-
-
-
-
1Loss-
TADA3-
-
-
-
1Loss-
TAF10-
-
-
-
1Loss-
TAF1Bp.N391K
Missense
SNP
0.171
3Gain-
TAF1L-
-
-
-
1Loss-
TAF2-
-
-
-
3Gain-
TAF4Bp.Q342H
Missense
SNP
0.100
10Amp-
TAGLN3-
-
-
-
3Gain-
TAL2-
-
-
-
1Loss-
TALDO1-
-
-
-
1Loss-
TAMM41-
-
-
-
1Loss-
TATDN1-
-
-
-
3Gain-
TATDN2-
-
-
-
1Loss-
TBC1D13-
-
-
-
1Loss-
TBC1D2p.E2Rfs*51
Frame_Shift_Del
DEL
0.944
1Loss-
TBC1D21-
-
-
-
1Loss-
TBC1D23p.E243*
Nonsense
SNP
0.391
3Gain-
TBC1D31-
-
-
-
3Gain-
TBC1D5-
-
-
-
1Loss-
TBCCD1-
-
-
-
3Gain-
TBL1XR1-
-
-
-
3Gain-
TBXA2R-
-
-
-
1Loss-
TCAIM-
-
-
-
1Loss-
TCEA1-
-
-
-
3Gain-
TCEAL6p.A174P
Missense
SNP
0.059
NDND-
TCEB2p.S129N
Missense
SNP
0.095
NDND-
TCF12-
-
-
-
1Loss-
TCF23-
-
-
-
3Gain-
TCF24-
-
-
-
3Gain-
TCF3-
-
-
-
1Loss-
TCF4-
-
-
-
1Loss-
TCHH-
-
-
-
3Gain-
TCIM-
-
-
-
1Loss-
TCL1Ap.R17L
Missense
SNP
0.447
2--
TCP11L1-
-
-
-
1Loss-
TCTA-
-
-
-
1Loss-
TCTEX1D2-
-
-
-
3Gain-
TDGF1-
-
-
-
1Loss-
TDRD15-
-
-
-
3Gain-
TDRD7-
-
-
-
1Loss-
TDRP-
-
-
-
1Loss-
TEAD1-
-
-
-
1Loss-
TECR-
-
-
-
1Loss-
TEFp.E159*
Nonsense
SNP
0.433
2--
TEK-
-
-
-
1Loss-
TEP1-
-
-
-
1Loss-
TERB2-
-
-
-
1Loss-
TERF1-
-
-
-
3Gain-
TESK1-
-
-
-
1Loss-
TEX10-
-
-
-
1Loss-
TEX15-
-
-
-
1Loss-
TEX261-
-
-
-
3Gain-
TEX264-
-
-
-
1Loss-
TEX45-
-
-
-
1Loss-
TEX48-
-
-
-
1Loss-
TEX9-
-
-
-
1Loss-
TF-
-
-
-
3Gain-
TFDP2-
-
-
-
3Gain-
TFG-
-
-
-
3Gain-
TFRC-
-
-
-
3Gain-
TGp.E2195Q
Missense
SNP
0.332
3Gain-
TGFA-
-
-
-
3Gain-
TGFBR1-
-
-
-
1Loss-
TGFBR2-
-
-
-
1Loss-
TGFBR3L-
-
-
-
1Loss-
TGM1-
-
-
-
1Loss-
TGM4-
-
-
-
1Loss-
TGM5-
-
-
-
1Loss-
TGM7-
-
-
-
1Loss-
TGS1-
-
-
-
3Gain-
TH-
-
-
-
1Loss-
THADA-
-
-
-
3Gain-
THAP1-
-
-
-
1Loss-
THAP10-
-
-
-
1Loss-
THBS1-
-
-
-
1Loss-
THEG-
-
-
-
1Loss-
THEM6-
-
-
-
3Gain-
THOC7-
-
-
-
1Loss-
THOP1-
-
-
-
1Loss-
THPO-
-
-
-
3Gain-
THRB-
-
-
-
1Loss-
THSD4-
-
-
-
1Loss-
THTPA-
-
-
-
1Loss-
THUMPD2-
-
-
-
3Gain-
THUMPD3-
-
-
-
1Loss-
TIA1-
-
-
-
3Gain-
TICAM1-
-
-
-
1Loss-
TIGD5-
-
-
-
3Gain-
TIGIT-
-
-
-
3Gain-
TIMM10B-
-
-
-
1Loss-
TIMM13-
-
-
-
1Loss-
TIMM21-
-
-
-
1Loss-
TIMM29-
-
-
-
1Loss-
TIMM44-
-
-
-
1Loss-
TIMMDC1-
-
-
-
3Gain-
TIMP4-
-
-
-
1Loss-
TINF2-
-
-
-
1Loss-
TIPARP-
-
-
-
3Gain-
TIPIN-
-
-
-
1Loss-
TJP1-
-
-
-
1Loss-
TJP2-
-
-
-
1Loss-
TJP3-
-
-
-
1Loss-
TKT-
-
-
-
1Loss-
TLE1-
-
-
-
1Loss-
TLE2-
-
-
-
1Loss-
TLE3-
-
-
-
1Loss-
TLE4-
-
-
-
1Loss-
TLE6-
-
-
-
1Loss-
TLN1-
-
-
-
1Loss-
TLN2-
-
-
-
1Loss-
TLR4-
-
-
-
1Loss-
TLR9-
-
-
-
1Loss-
TM2D2-
-
-
-
1Loss-
TM4SF1-
-
-
-
3Gain-
TM4SF18-
-
-
-
3Gain-
TM4SF19-
-
-
-
3Gain-
TM4SF19-TCTEX1D2-
-
-
-
3Gain-
TM4SF4-
-
-
-
3Gain-
TM6SF2-
-
-
-
1Loss-
TM9SF1-
-
-
-
1Loss-
TMA7-
-
-
-
1Loss-
TMC1-
-
-
-
1Loss-
TMCC1-
-
-
-
3Gain-
TMCO5A-
-
-
-
1Loss-
TMED1-
-
-
-
1Loss-
TMEFF1-
-
-
-
1Loss-
TMEM108-
-
-
-
3Gain-
TMEM110-MUSTN1-
-
-
-
1Loss-
TMEM115-
-
-
-
1Loss-
TMEM132Ap.E825K
Missense
SNP
0.102
2--
TMEM141-
-
-
-
1Loss-
TMEM158-
-
-
-
1Loss-
TMEM161A-
-
-
-
1Loss-
TMEM17-
-
-
-
3Gain-
TMEM178A-
-
-
-
3Gain-
TMEM18-
-
-
-
3Gain-
TMEM200Ap.L188F
Missense
SNP
0.430
2--
TMEM202-
-
-
-
1Loss-
TMEM203-
-
-
-
1Loss-
TMEM205-
-
-
-
1Loss-
TMEM207-
-
-
-
3Gain-
TMEM210-
-
-
-
1Loss-
TMEM212-
-
-
-
3Gain-
TMEM214-
-
-
-
3Gain-
TMEM215-
-
-
-
1Loss-
TMEM221-
-
-
-
1Loss-
TMEM245-
-
-
-
1Loss-
TMEM246-
-
-
-
1Loss-
TMEM247-
-
-
-
3Gain-
TMEM249-
-
-
-
3Gain-
TMEM250-
-
-
-
1Loss-
TMEM252-
-
-
-
1Loss-
TMEM253-
-
-
-
1Loss-
TMEM259-
-
-
-
1Loss-
TMEM266p.L126F
Missense
SNP
0.493
2--
TMEM268-
-
-
-
1Loss-
TMEM38A-
-
-
-
1Loss-
TMEM38B-
-
-
-
1Loss-
TMEM39A-
-
-
-
3Gain-
TMEM40-
-
-
-
1Loss-
TMEM41A-
-
-
-
3Gain-
TMEM41B-
-
-
-
1Loss-
TMEM42-
-
-
-
1Loss-
TMEM43-
-
-
-
1Loss-
TMEM44-
-
-
-
3Gain-
TMEM45A-
-
-
-
3Gain-
TMEM59L-
-
-
-
1Loss-
TMEM62-
-
-
-
1Loss-
TMEM64-
-
-
-
3Gain-
TMEM65-
-
-
-
3Gain-
TMEM67-
-
-
-
3Gain-
TMEM68-
-
-
-
3Gain-
TMEM70-
-
-
-
3Gain-
TMEM71-
-
-
-
3Gain-
TMEM74-
-
-
-
3Gain-
TMEM80-
-
-
-
1Loss-
TMEM86A-
-
-
-
1Loss-
TMEM87A-
-
-
-
1Loss-
TMEM89-
-
-
-
1Loss-
TMEM8B-
-
-
-
1Loss-
TMEM94p.G142I
Missense
MNP
0.445
2--
TMEM9B-
-
-
-
1Loss-
TMF1-
-
-
-
1Loss-
TMIE-
-
-
-
1Loss-
TMIGD2-
-
-
-
1Loss-
TMOD1-
-
-
-
1Loss-
TMOD2-
-
-
-
1Loss-
TMOD3-
-
-
-
1Loss-
TMPPE-
-
-
-
1Loss-
TMPRSS4p.S147C
Missense
SNP
0.522
2--
TMPRSS7-
-
-
-
3Gain-
TMPRSS9-
-
-
-
1Loss-
TMX3-
-
-
-
1Loss-
TNC-
-
-
-
1Loss-
TNFAIP8L1-
-
-
-
1Loss-
TNFAIP8L3-
-
-
-
1Loss-
TNFRSF10A-
-
-
-
1Loss-
TNFRSF10B-
-
-
-
1Loss-
TNFRSF10C-
-
-
-
1Loss-
TNFRSF10D-
-
-
-
1Loss-
TNFRSF11A-
-
-
-
1Loss-
TNFRSF11B-
-
-
-
3Gain-
TNFSF10-
-
-
-
3Gain-
TNFSF14-
-
-
-
1Loss-
TNFSF15-
-
-
-
1Loss-
TNFSF8-
-
-
-
1Loss-
TNFSF9-
-
-
-
1Loss-
TNIK-
-
-
-
3Gain-
TNK2-
-
-
-
3Gain-
TNKS-
-
-
-
1Loss-
TNNC1-
-
-
-
1Loss-
TNNI2-
-
-
-
1Loss-
TNNT3-
-
-
-
1Loss-
TNPO2-
-
-
-
1Loss-
TNRC18p.E2817V
Missense
SNP
0.571
2--
TOGARAM2-
-
-
-
3Gain-
TOLLIP-
-
-
-
1Loss-
TOMM5-
-
-
-
1Loss-
TOMM70-
-
-
-
3Gain-
TONSL-
-
-
-
3Gain-
TOP1MT-
-
-
-
3Gain-
TOP2B-
-
-
-
1Loss-
TOPAZ1-
-
-
-
1Loss-
TOPBP1-
-
-
-
3Gain-
TOPORS-
-
-
-
1Loss-
TOR1A-
-
-
-
1Loss-
TOR1B-
-
-
-
1Loss-
TOR2A-
-
-
-
1Loss-
TOR4A-
-
-
-
1Loss-
TOX-
-
-
-
3Gain-
TOX4-
-
-
-
1Loss-
TP53p.R273H
p.Q52K
Missense
Missense
SNP
SNP
0.452
0.459
2--
TP53BP1-
-
-
-
1Loss-
TP53I11-
-
-
-
1Loss-
TP53I3-
-
-
-
3Gain-
TP53INP1p.L122F
Missense
SNP
0.245
3Gain-
TP63-
-
-
-
3Gain-
TPD52-
-
-
-
3Gain-
TPD52L3-
-
-
-
1Loss-
TPGS1-
-
-
-
1Loss-
TPGS2-
-
-
-
1Loss-
TPH1-
-
-
-
1Loss-
TPM1-
-
-
-
1Loss-
TPM2-
-
-
-
1Loss-
TPM4-
-
-
-
1Loss-
TPO-
-
-
-
3Gain-
TPP1-
-
-
-
1Loss-
TPPP2-
-
-
-
1Loss-
TPRA1-
-
-
-
3Gain-
TPRG1-
-
-
-
3Gain-
TPRN-
-
-
-
1Loss-
TPTE2-
-
-
-
3Gain-
TRA2B-
-
-
-
3Gain-
TRAF1-
-
-
-
1Loss-
TRAF2-
-
-
-
1Loss-
TRAF6-
-
-
-
1Loss-
TRAFD1-
-
-
-
1Loss-
TRAIP-
-
-
-
1Loss-
TRAK1-
-
-
-
1Loss-
TRAM1-
-
-
-
3Gain-
TRANK1p.R2658Q
Missense
SNP
0.103
1Loss-
TRAPPC12-
-
-
-
3Gain-
TRAPPC5-
-
-
-
1Loss-
TRAPPC8-
-
-
-
13Amp-
TRAPPC9-
-
-
-
3Gain-
TRAT1-
-
-
-
3Gain-
TRBV6-7p.P102H
Missense
SNP
0.265
NDND-
TRDNp.I540T
Missense
SNP
0.396
2--
TRDV1-
-
-
-
1Loss-
TREX1-
-
-
-
1Loss-
TRH-
-
-
-
3Gain-
TRHRp.W91C
Missense
SNP
0.358
3Gain-
TRIB1-
-
-
-
3Gain-
TRIB2-
-
-
-
3Gain-
TRIM14-
-
-
-
1Loss-
TRIM21-
-
-
-
1Loss-
TRIM22-
-
-
-
1Loss-
TRIM3-
-
-
-
1Loss-
TRIM32-
-
-
-
1Loss-
TRIM35-
-
-
-
1Loss-
TRIM42-
-
-
-
3Gain-
TRIM44-
-
-
-
1Loss-
TRIM45p.D98N
Missense
SNP
0.463
2--
TRIM49B-
-
-
-
1Loss-
TRIM5-
-
-
-
1Loss-
TRIM51GP-
-
-
-
1Loss-
TRIM54-
-
-
-
3Gain-
TRIM55-
-
-
-
3Gain-
TRIM59-
-
-
-
3Gain-
TRIM6-
-
-
-
1Loss-
TRIM6-TRIM34-
-
-
-
1Loss-
TRIM64C-
-
-
-
1Loss-
TRIM66-
-
-
-
1Loss-
TRIM68-
-
-
-
1Loss-
TRIM69-
-
-
-
1Loss-
TRIM71-
-
-
-
1Loss-
TRIP10-
-
-
-
1Loss-
TRIP4-
-
-
-
1Loss-
TRIQK-
-
-
-
3Gain-
TRIR-
-
-
-
1Loss-
TRMO-
-
-
-
1Loss-
TRMT1-
-
-
-
1Loss-
TRMT10B-
-
-
-
1Loss-
TRMT10C-
-
-
-
3Gain-
TRMT12-
-
-
-
3Gain-
TRMT61B-
-
-
-
3Gain-
TRMT9B-
-
-
-
1Loss-
TRNT1-
-
-
-
1Loss-
TRPA1-
-
-
-
3Gain-
TRPC1-
-
-
-
3Gain-
TRPM1-
-
-
-
1Loss-
TRPM3-
-
-
-
1Loss-
TRPM5-
-
-
-
1Loss-
TRPM6-
-
-
-
1Loss-
TRPM7-
-
-
-
1Loss-
TRPS1-
-
-
-
3Gain-
TRUB2-
-
-
-
1Loss-
TSC1-
-
-
-
1Loss-
TSC22D2-
-
-
-
3Gain-
TSEN2-
-
-
-
1Loss-
TSG101-
-
-
-
1Loss-
TSHZ1-
-
-
-
1Loss-
TSNARE1-
-
-
-
3Gain-
TSPAN16-
-
-
-
1Loss-
TSPAN18-
-
-
-
1Loss-
TSPAN32-
-
-
-
1Loss-
TSPAN4-
-
-
-
1Loss-
TSPYL5-
-
-
-
3Gain-
TSPYL6-
-
-
-
3Gain-
TSSC4-
-
-
-
1Loss-
TSSK4-
-
-
-
1Loss-
TSSK6-
-
-
-
1Loss-
TSTA3-
-
-
-
3Gain-
TSTD2-
-
-
-
1Loss-
TTBK2-
-
-
-
1Loss-
TTC14-
-
-
-
3Gain-
TTC16-
-
-
-
1Loss-
TTC17-
-
-
-
1Loss-
TTC19p.D110G
Missense
SNP
0.468
2--
TTC21A-
-
-
-
1Loss-
TTC27-
-
-
-
3Gain-
TTC32-
-
-
-
3Gain-
TTC39B-
-
-
-
1Loss-
TTC5-
-
-
-
1Loss-
TTC7A-
-
-
-
3Gain-
TTF1-
-
-
-
1Loss-
TTI2-
-
-
-
1Loss-
TTKp.T207A
Missense
SNP
0.405
2--
TTLL11-
-
-
-
1Loss-
TTLL3-
-
-
-
1Loss-
TTNp.M27022T
p.Y24100N
p.Q17667E
Missense
Missense
Missense
SNP
SNP
SNP
0.411
0.449
0.442
2--
TTPA-
-
-
-
3Gain-
TTR-
-
-
-
13Amp-
TUB-
-
-
-
1Loss-
TUBA3C-
-
-
-
3Gain-
TUBB4A-
-
-
-
1Loss-
TUBB4B-
-
-
-
1Loss-
TUBGCP2-
-
-
-
1Loss-
TUBGCP4-
-
-
-
1Loss-
TUBGCP5-
-
-
-
1Loss-
TUSC1-
-
-
-
1Loss-
TUSC2-
-
-
-
1Loss-
TUSC3-
-
-
-
1Loss-
TUT7-
-
-
-
1Loss-
TWF2-
-
-
-
1Loss-
TXN-
-
-
-
1Loss-
TXNDC8-
-
-
-
1Loss-
TXNL1-
-
-
-
1Loss-
TXNL4A-
-
-
-
1Loss-
TXNRD3-
-
-
-
3Gain-
TYK2p.R1058L
Missense
SNP
0.982
1Loss-
TYRO3-
-
-
-
1Loss-
TYRP1-
-
-
-
1Loss-
U2AF1L5-
-
-
-
1Loss-
U2SURP-
-
-
-
3Gain-
UACA-
-
-
-
1Loss-
UAP1L1-
-
-
-
1Loss-
UBA3-
-
-
-
1Loss-
UBA5-
-
-
-
3Gain-
UBA52-
-
-
-
1Loss-
UBA7-
-
-
-
1Loss-
UBAC1-
-
-
-
1Loss-
UBAP1-
-
-
-
1Loss-
UBAP1L-
-
-
-
1Loss-
UBAP2-
-
-
-
1Loss-
UBE2E1-
-
-
-
1Loss-
UBE2E2-
-
-
-
1Loss-
UBE2L6p.P115L
Missense
SNP
0.456
2--
UBE2R2-
-
-
-
1Loss-
UBE2V2-
-
-
-
3Gain-
UBE2W-
-
-
-
3Gain-
UBE3A-
-
-
-
1Loss-
UBL5-
-
-
-
1Loss-
UBL7-
-
-
-
1Loss-
UBP1-
-
-
-
1Loss-
UBQLN1-
-
-
-
1Loss-
UBQLN3-
-
-
-
1Loss-
UBQLNL-
-
-
-
1Loss-
UBR1-
-
-
-
1Loss-
UBR5-
-
-
-
3Gain-
UBXN2A-
-
-
-
3Gain-
UBXN2B-
-
-
-
3Gain-
UBXN6-
-
-
-
1Loss-
UBXN7-
-
-
-
3Gain-
UBXN8-
-
-
-
1Loss-
UCK1-
-
-
-
1Loss-
UCN-
-
-
-
3Gain-
UCN2-
-
-
-
1Loss-
UEVLD-
-
-
-
1Loss-
UGCG-
-
-
-
1Loss-
UGP2-
-
-
-
3Gain-
UHRF1-
-
-
-
1Loss-
UHRF2-
-
-
-
1Loss-
ULK3-
-
-
-
1Loss-
ULK4-
-
-
-
1Loss-
UMPS-
-
-
-
3Gain-
UNC13A-
-
-
-
1Loss-
UNC13B-
-
-
-
1Loss-
UNC13C-
-
-
-
1Loss-
UNC5D-
-
-
-
1Loss-
UNC80p.H482Y
Missense
SNP
0.478
2--
UPF1-
-
-
-
1Loss-
UPK1B-
-
-
-
3Gain-
UQCR11-
-
-
-
1Loss-
UQCRB-
-
-
-
3Gain-
UQCRC1-
-
-
-
1Loss-
URM1-
-
-
-
1Loss-
UROC1-
-
-
-
3Gain-
USE1-
-
-
-
1Loss-
USF3-
-
-
-
3Gain-
USH1C-
-
-
-
1Loss-
USH2Ap.R4972S
Missense
SNP
0.457
2--
USHBP1-
-
-
-
1Loss-
USP13-
-
-
-
3Gain-
USP19-
-
-
-
1Loss-
USP2p.G77S
Missense
SNP
0.632
2--
USP20-
-
-
-
1Loss-
USP3-
-
-
-
1Loss-
USP34-
-
-
-
3Gain-
USP4-
-
-
-
1Loss-
USP47-
-
-
-
1Loss-
USP50-
-
-
-
1Loss-
USP8-
-
-
-
1Loss-
UTF1-
-
-
-
1Loss-
UTP20p.D166H
Missense
SNP
0.500
2--
UTP23-
-
-
-
3Gain-
UTS2B-
-
-
-
3Gain-
UVRAGp.L547V
Missense
SNP
0.524
2--
VAV1-
-
-
-
1Loss-
VAV2-
-
-
-
1Loss-
VAX2-
-
-
-
3Gain-
VCANp.G38*
Nonsense
SNP
0.492
2--
VCP-
-
-
-
1Loss-
VCPIP1-
-
-
-
3Gain-
VDAC3-
-
-
-
1Loss-
VEPH1-
-
-
-
3Gain-
VGLL3-
-
-
-
1Loss-
VGLL4-
-
-
-
1Loss-
VHL-
-
-
-
1Loss-
VILL-
-
-
-
1Loss-
VIPR1-
-
-
-
1Loss-
VIRMA-
-
-
-
3Gain-
VIT-
-
-
-
3Gain-
VLDLR-
-
-
-
1Loss-
VMAC-
-
-
-
1Loss-
VPS13A-
-
-
-
1Loss-
VPS13B-
-
-
-
3Gain-
VPS13C-
-
-
-
1Loss-
VPS18-
-
-
-
1Loss-
VPS28-
-
-
-
3Gain-
VPS36-
-
-
-
2-RNA5-8SN2--VPS36
VPS37A-
-
-
-
1Loss-
VPS39-
-
-
-
1Loss-
VPS4B-
-
-
-
1Loss-
VPS50p.W920*
Nonsense
SNP
0.396
2--
VPS54-
-
-
-
3Gain-
VPS8-
-
-
-
3Gain-
VRK2-
-
-
-
3Gain-
VSNL1p.E46K
Missense
SNP
0.277
3Gain-
VWA5B2-
-
-
-
3Gain-
VXN-
-
-
-
3Gain-
WASHC5-
-
-
-
3Gain-
WDCP-
-
-
-
3Gain-
WDPCP-
-
-
-
3Gain-
WDR18-
-
-
-
1Loss-
WDR31-
-
-
-
1Loss-
WDR34-
-
-
-
1Loss-
WDR35-
-
-
-
3Gain-
WDR38-
-
-
-
1Loss-
WDR43-
-
-
-
3Gain-
WDR44p.L758F
Missense
SNP
0.968
NDND-
WDR48-
-
-
-
1Loss-
WDR49-
-
-
-
3Gain-
WDR5-
-
-
-
1Loss-
WDR53-
-
-
-
3Gain-
WDR5B-
-
-
-
3Gain-
WDR6-
-
-
-
1Loss-
WDR7-
-
-
-
1Loss-
WDR72-
-
-
-
1Loss-
WDR76-
-
-
-
1Loss-
WDR82-
-
-
-
1Loss-
WDR83-
-
-
-
1Loss-
WDR83OS-
-
-
-
1Loss-
WDR92-
-
-
-
3Gain-
WDR97-
-
-
-
3Gain-
WDYHV1-
-
-
-
3Gain-
WEE1-
-
-
-
1Loss-
WHRN-
-
-
-
1Loss-
WISP1-
-
-
-
3Gain-
WIZ-
-
-
-
1Loss-
WNK2-
-
-
-
1Loss-
WNK3p.S866Y
Missense
SNP
0.931
NDND-
WNT3Ap.R344S
Missense
SNP
0.500
2--
WNT5A-
-
-
-
1Loss-
WNT7A-
-
-
-
1Loss-
WRN-
-
-
-
1Loss-
WT1-
-
-
-
1Loss-
WWP1-
-
-
-
3Gain-
WWP2-
-
-
-
2-WWP2--CLEC18A
WWTR1-
-
-
-
3Gain-
XAB2-
-
-
-
1Loss-
XCR1-
-
-
-
1Loss-
XDHp.T1075A
Missense
SNP
0.302
3Gain-
XIRP1-
-
-
-
1Loss-
XKR4-
-
-
-
3Gain-
XKR5-
-
-
-
1Loss-
XKR6-
-
-
-
1Loss-
XKR9-
-
-
-
3Gain-
XPA-
-
-
-
1Loss-
XPC-
-
-
-
1Loss-
XPO1-
-
-
-
3Gain-
XPO7-
-
-
-
1Loss-
XPR1p.N361I
Missense
SNP
0.436
2--
XRN1-
-
-
-
3Gain-
XXYLT1-
-
-
-
3Gain-
XYLB-
-
-
-
1Loss-
YEATS2-
-
-
-
3Gain-
YIPF2-
-
-
-
1Loss-
YIPF4-
-
-
-
3Gain-
YIPF7p.P113H
Missense
SNP
0.965
2--
YJEFN3-
-
-
-
1Loss-
YJU2-
-
-
-
1Loss-
YPEL5-
-
-
-
3Gain-
YTHDF3-
-
-
-
3Gain-
YWHAQ-
-
-
-
3Gain-
YWHAZ-
-
-
-
3Gain-
Z84492.1-
-
-
-
1Loss-
ZADH2-
-
-
-
1Loss-
ZBBX-
-
-
-
3Gain-
ZBED2-
-
-
-
3Gain-
ZBED5-
-
-
-
1Loss-
ZBTB10-
-
-
-
3Gain-
ZBTB11-
-
-
-
3Gain-
ZBTB2p.A352S
Missense
SNP
0.528
2--
ZBTB20-
-
-
-
3Gain-
ZBTB26-
-
-
-
1Loss-
ZBTB34-
-
-
-
1Loss-
ZBTB38-
-
-
-
3Gain-
ZBTB43-
-
-
-
1Loss-
ZBTB47-
-
-
-
1Loss-
ZBTB5-
-
-
-
1Loss-
ZBTB6-
-
-
-
1Loss-
ZBTB7A-
-
-
-
1Loss-
ZBTB7C-
-
-
-
1Loss-
ZC2HC1A-
-
-
-
3Gain-
ZC3H12Dp.D492Y
Missense
SNP
0.591
2--
ZC3H3-
-
-
-
3Gain-
ZCCHC2-
-
-
-
1Loss-
ZCCHC7-
-
-
-
1Loss-
ZCWPW2-
-
-
-
1Loss-
ZDHHC12-
-
-
-
1Loss-
ZDHHC13-
-
-
-
1Loss-
ZDHHC19-
-
-
-
3Gain-
ZDHHC2-
-
-
-
1Loss-
ZDHHC21-
-
-
-
1Loss-
ZDHHC23-
-
-
-
3Gain-
ZDHHC3-
-
-
-
1Loss-
ZER1-
-
-
-
1Loss-
ZFAND1-
-
-
-
3Gain-
ZFAND2Ap.G194*
Nonsense
SNP
0.458
2--
ZFAND5-
-
-
-
1Loss-
ZFAT-
-
-
-
3Gain-
ZFHX2-
-
-
-
1Loss-
ZFHX4p.L425V
Missense
SNP
0.322
3Gain-
ZFP36L2-
-
-
-
3Gain-
ZFP37-
-
-
-
1Loss-
ZFP41-
-
-
-
3Gain-
ZFP57p.D161E
Missense
SNP
0.466
2--
ZFPM2-
-
-
-
3Gain-
ZFR2-
-
-
-
1Loss-
ZFYVE19-
-
-
-
1Loss-
ZGLP1-
-
-
-
1Loss-
ZHX1-
-
-
-
3Gain-
ZHX1-C8orf76-
-
-
-
3Gain-
ZHX2-
-
-
-
3Gain-
ZIC1-
-
-
-
3Gain-
ZIC4-
-
-
-
3Gain-
ZKSCAN7-
-
-
-
1Loss-
ZMAT3-
-
-
-
3Gain-
ZMAT4-
-
-
-
1Loss-
ZMYM2-
-
-
-
3Gain-
ZMYM5-
-
-
-
3Gain-
ZMYND10-
-
-
-
1Loss-
ZMYND15p.P678L
Missense
SNP
0.424
2--
ZMYND19-
-
-
-
1Loss-
ZNF100-
-
-
-
1Loss-
ZNF101-
-
-
-
1Loss-
ZNF106-
-
-
-
1Loss-
ZNF121-
-
-
-
1Loss-
ZNF136-
-
-
-
1Loss-
ZNF14-
-
-
-
1Loss-
ZNF143-
-
-
-
1Loss-
ZNF148-
-
-
-
3Gain-
ZNF16-
-
-
-
3Gain-
ZNF169-
-
-
-
1Loss-
ZNF177-
-
-
-
1Loss-
ZNF189-
-
-
-
1Loss-
ZNF195-
-
-
-
1Loss-
ZNF197-
-
-
-
1Loss-
ZNF20-
-
-
-
1Loss-
ZNF208-
-
-
-
1Loss-
ZNF214-
-
-
-
1Loss-
ZNF215-
-
-
-
1Loss-
ZNF219-
-
-
-
1Loss-
ZNF236-
-
-
-
1Loss-
ZNF24-
-
-
-
1Loss-
ZNF250-
-
-
-
3Gain-
ZNF251-
-
-
-
3Gain-
ZNF253-
-
-
-
1Loss-
ZNF254-
-
-
-
1Loss-
ZNF257-
-
-
-
1Loss-
ZNF266-
-
-
-
1Loss-
ZNF274p.R77G
Missense
SNP
0.979
2--
ZNF280D-
-
-
-
1Loss-
ZNF317-
-
-
-
1Loss-
ZNF333-
-
-
-
1Loss-
ZNF34-
-
-
-
3Gain-
ZNF35-
-
-
-
1Loss-
ZNF358-
-
-
-
1Loss-
ZNF367-
-
-
-
1Loss-
ZNF385D-
-
-
-
1Loss-
ZNF395-
-
-
-
1Loss-
ZNF396-
-
-
-
1Loss-
ZNF397-
-
-
-
1Loss-
ZNF407-
-
-
-
1Loss-
ZNF408-
-
-
-
1Loss-
ZNF414-
-
-
-
1Loss-
ZNF423p.Y1168*
Nonsense
SNP
0.455
2--
ZNF426-
-
-
-
1Loss-
ZNF429-
-
-
-
1Loss-
ZNF43-
-
-
-
1Loss-
ZNF430-
-
-
-
1Loss-
ZNF431-
-
-
-
1Loss-
ZNF433-
-
-
-
1Loss-
ZNF439-
-
-
-
1Loss-
ZNF44-
-
-
-
1Loss-
ZNF440-
-
-
-
1Loss-
ZNF441-
-
-
-
1Loss-
ZNF442-
-
-
-
1Loss-
ZNF443-
-
-
-
1Loss-
ZNF445-
-
-
-
1Loss-
ZNF462-
-
-
-
1Loss-
ZNF483-
-
-
-
1Loss-
ZNF484-
-
-
-
1Loss-
ZNF486-
-
-
-
1Loss-
ZNF490-
-
-
-
1Loss-
ZNF491-
-
-
-
1Loss-
ZNF492-
-
-
-
1Loss-
ZNF493-
-
-
-
1Loss-
ZNF501-
-
-
-
1Loss-
ZNF502-
-
-
-
1Loss-
ZNF506-
-
-
-
1Loss-
ZNF510-
-
-
-
1Loss-
ZNF511-
-
-
-
1Loss-
ZNF511-PRAP1-
-
-
-
1Loss-
ZNF512-
-
-
-
3Gain-
ZNF513-
-
-
-
3Gain-
ZNF516-
-
-
-
1Loss-
ZNF517-
-
-
-
3Gain-
ZNF521-
-
-
-
4Gain-
ZNF532-
-
-
-
1Loss-
ZNF554-
-
-
-
1Loss-
ZNF555-
-
-
-
1Loss-
ZNF556-
-
-
-
1Loss-
ZNF557-
-
-
-
1Loss-
ZNF558-
-
-
-
1Loss-
ZNF559-
-
-
-
1Loss-
ZNF559-ZNF177-
-
-
-
1Loss-
ZNF560-
-
-
-
1Loss-
ZNF561-
-
-
-
1Loss-
ZNF562-
-
-
-
1Loss-
ZNF563-
-
-
-
1Loss-
ZNF564-
-
-
-
1Loss-
ZNF57-
-
-
-
1Loss-
ZNF572-
-
-
-
3Gain-
ZNF589-
-
-
-
1Loss-
ZNF596-
-
-
-
1Loss-
ZNF598p.Q19R
Missense
SNP
0.364
2--
ZNF605p.P535R
Missense
SNP
0.351
2--
ZNF609-
-
-
-
1Loss-
ZNF618-
-
-
-
1Loss-
ZNF619-
-
-
-
1Loss-
ZNF620-
-
-
-
1Loss-
ZNF621-
-
-
-
1Loss-
ZNF623-
-
-
-
3Gain-
ZNF625-
-
-
-
1Loss-
ZNF625-ZNF20-
-
-
-
1Loss-
ZNF626-
-
-
-
1Loss-
ZNF627-
-
-
-
1Loss-
ZNF638-
-
-
-
3Gain-
ZNF639-
-
-
-
3Gain-
ZNF653-
-
-
-
1Loss-
ZNF654-
-
-
-
1Loss-
ZNF658-
-
-
-
1Loss-
ZNF66-
-
-
-
1Loss-
ZNF660-
-
-
-
1Loss-
ZNF662-
-
-
-
1Loss-
ZNF675-
-
-
-
1Loss-
ZNF676-
-
-
-
1Loss-
ZNF681-
-
-
-
1Loss-
ZNF682-
-
-
-
1Loss-
ZNF69-
-
-
-
1Loss-
ZNF696-
-
-
-
3Gain-
ZNF699-
-
-
-
1Loss-
ZNF7-
-
-
-
3Gain-
ZNF70p.R39K
Missense
SNP
0.426
2--
ZNF700-
-
-
-
1Loss-
ZNF703-
-
-
-
1Loss-
ZNF704-
-
-
-
3Gain-
ZNF706-
-
-
-
3Gain-
ZNF707-
-
-
-
3Gain-
ZNF708-
-
-
-
1Loss-
ZNF709-
-
-
-
1Loss-
ZNF714-
-
-
-
1Loss-
ZNF717-
-
-
-
1Loss-
ZNF718p.L85F
Missense
SNP
0.982
2--
ZNF723-
-
-
-
1Loss-
ZNF724-
-
-
-
1Loss-
ZNF726-
-
-
-
1Loss-
ZNF728-
-
-
-
1Loss-
ZNF729-
-
-
-
1Loss-
ZNF730-
-
-
-
1Loss-
ZNF737-
-
-
-
1Loss-
ZNF738-
-
-
-
1Loss-
ZNF763-
-
-
-
1Loss-
ZNF77-
-
-
-
1Loss-
ZNF770-
-
-
-
1Loss-
ZNF782-
-
-
-
1Loss-
ZNF79-
-
-
-
1Loss-
ZNF791-
-
-
-
1Loss-
ZNF799-
-
-
-
1Loss-
ZNF80-
-
-
-
3Gain-
ZNF823-
-
-
-
1Loss-
ZNF841p.L556I
Missense
SNP
0.498
2--
ZNF844-
-
-
-
1Loss-
ZNF846-
-
-
-
1Loss-
ZNF85-
-
-
-
1Loss-
ZNF852-
-
-
-
1Loss-
ZNF860-
-
-
-
1Loss-
ZNF878-
-
-
-
1Loss-
ZNF883-
-
-
-
1Loss-
ZNF90-
-
-
-
1Loss-
ZNF91-
-
-
-
1Loss-
ZNF93-
-
-
-
1Loss-
ZNF98-
-
-
-
1Loss-
ZNF99-
-
-
-
1Loss-
ZNRF4-
-
-
-
1Loss-
ZPLD1-
-
-
-
3Gain-
ZSCAN1p.A197S
Missense
SNP
0.951
2--
ZSCAN29-
-
-
-
1Loss-
ZSCAN30-
-
-
-
1Loss-
ZSWIM4-
-
-
-
1Loss-
ZWILCH-
-
-
-
1Loss-
ZXDCp.A274S
Missense
SNP
0.659
3Gain-
ZYG11Ap.A75V
Missense
SNP
0.399
2--